ClinVar Genomic variation as it relates to human health
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
Variation ID: 11811 Accession: VCV000011811.104
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: Xq28 X: 154031355 (GRCh38) [ NCBI UCSC ] X: 153296806 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 22, 2015 May 12, 2024 Mar 14, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001110792.2:c.509C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001104262.1:p.Thr170Met missense NM_004992.4:c.473C>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004983.1:p.Thr158Met missense NM_001316337.2:c.194C>T NP_001303266.1:p.Thr65Met missense NM_001369391.2:c.194C>T NP_001356320.1:p.Thr65Met missense NM_001369392.2:c.194C>T NP_001356321.1:p.Thr65Met missense NM_001369393.2:c.194C>T NP_001356322.1:p.Thr65Met missense NM_001369394.2:c.194C>T NP_001356323.1:p.Thr65Met missense NM_001386137.1:c.-129+41C>T intron variant NM_001386138.1:c.-129+41C>T intron variant NM_001386139.1:c.-129+41C>T intron variant NM_004992.3:c.[473C>T] NC_000023.11:g.154031355G>A NC_000023.10:g.153296806G>A NG_007107.3:g.110749C>T LRG_764:g.110749C>T LRG_764t1:c.509C>T LRG_764p1:p.Thr170Met LRG_764t2:c.473C>T LRG_764p2:p.Thr158Met P51608:p.Thr158Met AJ132917.1:c.473C>T - Protein change
- T158M, T170M, T65M
- Other names
- p.T158M:ACG>ATG
- NM_001110792.2(MECP2):c.509C>T
- p.Thr170Met
- Canonical SPDI
- NC_000023.11:154031354:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MECP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1827 | 2150 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic/Likely pathogenic (25) |
criteria provided, multiple submitters, no conflicts
|
Feb 28, 2024 | RCV000012580.60 | |
Pathogenic (3) |
criteria provided, single submitter
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Jan 15, 2024 | RCV000170110.20 | |
Pathogenic (1) |
no assertion criteria provided
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Feb 26, 2014 | RCV000170109.9 | |
Pathogenic (12) |
criteria provided, multiple submitters, no conflicts
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Oct 14, 2023 | RCV000133129.45 | |
Pathogenic (1) |
no assertion criteria provided
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Feb 26, 2014 | RCV000169935.9 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Mar 30, 2021 | RCV000763199.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 7, 2020 | RCV000623451.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 10, 2021 | RCV001813975.9 | |
Pathogenic (1) |
criteria provided, single submitter
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May 4, 2022 | RCV002247328.9 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV002273926.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 14, 2024 | RCV003984805.2 | |
MECP2-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Dec 21, 2021 | RCV004540995.1 |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Rett's disorder
Affected status: yes
Allele origin:
unknown
|
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics
Accession: SCV000223837.1
First in ClinVar: Jun 10, 2015 Last updated: Jun 10, 2015 |
Number of individuals with the variant: 6
Family history: yes
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Pathogenic
(Feb 08, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000247971.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
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Pathogenic
(Aug 07, 2018)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
inherited
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000845272.1
First in ClinVar: May 03, 2018 Last updated: May 03, 2018 |
Number of individuals with the variant: 1
Sex: female
Geographic origin: Iran
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000331102.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 7
Sex: mixed
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
unknown
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
Accession: SCV000999345.1
First in ClinVar: Dec 01, 2019 Last updated: Dec 01, 2019 |
Number of individuals with the variant: 1
Clinical Features:
Hyperventilation (present) , Horizontal eyebrow (present) , Abnormality of the skin (present) , Full cheeks (present) , Facial grimacing (present) , Deeply set eye (present) … (more)
Hyperventilation (present) , Horizontal eyebrow (present) , Abnormality of the skin (present) , Full cheeks (present) , Facial grimacing (present) , Deeply set eye (present) , EEG abnormality (present) , Dry skin (present) , Developmental regression (present) , Bruxism (present) , Apnea (present) , Abnormality of the fingertips (present) , Abnormality of eye movement (present) , Loss of speech (present) , Short nose (present) , Stereotypy (present) , Autistic behavior (present) , Pes planus (present) , Sandal gap (present) , Psychomotor deterioration (present) , Speech apraxia (present) , Self-biting (present) , Stereotypical hand wringing (present) , Chronic constipation (present) , Thin upper lip vermilion (present) , Prominent forehead (present) , EEG with centrotemporal focal spike waves (present) , Inappropriate crying (present) (less)
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447435.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Global developmental delay (present)
Sex: female
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Pathogenic
(Feb 22, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450313.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 2
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Pathogenic
(Jul 10, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Abnormality of the nervous system
Affected status: yes
Allele origin:
germline
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Kariminejad - Najmabadi Pathology & Genetics Center
Accession: SCV001755524.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
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Pathogenic
(Jul 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000191038.12
First in ClinVar: Nov 01, 2014 Last updated: Mar 04, 2023 |
Comment:
Recurrent missense substitution that accounts for 9-12% of MECP2 pathogenic variants and has been identified in females with both classic and atypical Rett syndrome (Percy … (more)
Recurrent missense substitution that accounts for 9-12% of MECP2 pathogenic variants and has been identified in females with both classic and atypical Rett syndrome (Percy et al., 2007; Neul et al., 2008; Bao et al., 2013; RettBASE); Also identified in males with severe neonatal-onset encephalopathy and in females who did not meet clinical criteria for Rett syndrome but had overlapping clinical features, including pervasive developmental disorder or clinical features suggestive of Angelman syndrome (Suter et al., 2014; Kleefstra et al., 2005; Villard et al., 2000); In vitro functional studies indicate that T158M impairs normal protein function (Yusufzai et al., 2000; Kudo et al., 2003; Agarwal et al., 2011; Lyst et al., 2013; Sheikh et al., 2016); Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31031587, 12030010, 12843318, 21831886, 11071498, 28920956, 31535341, 31095231, 30945278, 30868116, 29655203, 30564305, 26175308, 28135719, 17236109, 17881312, 16077729, 25533962, 23921973, 12719401, 26418480, 26647311, 26795593, 23770565, 11058114, 10508514, 18337588, 18174548, 23421866, 14560307, 24511209, 23270700, 19442733, 19217433, 11738866, 11392517, 11738879, 10852707, 27929079) (less)
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Pathogenic
(Mar 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly Syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 X-linked intellectual disability-psychosis-macroorchidism syndrome Rett syndrome Rett syndrome
Affected status: unknown
Allele origin:
germline
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV003920187.1
First in ClinVar: Apr 30, 2023 Last updated: Apr 30, 2023 |
Comment:
MECP2 NM_004992.3 exon 4 p.Thr158Met (c.473C>T): This variant is one of the most common mutations associated with Rett syndrome, identified in several individuals (n>100) including … (more)
MECP2 NM_004992.3 exon 4 p.Thr158Met (c.473C>T): This variant is one of the most common mutations associated with Rett syndrome, identified in several individuals (n>100) including males, with Rett syndrome. This variant has been identified to segregate with disease and has also been reported to occur as de novo (Selected publications: Amir 1999 PMID: 10508514, Villard 2000 PMID:11071498, Neul 2008 PMID:18337588, Bao 2013 PMID:23421866, RettBASE http://mecp2.chw.edu.au/). This variant is not present in large control databases. This variant is present in ClinVar, with multiple labs classifying this variant as pathogenic (Variation ID:11811). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In addition, in vivo functional studies support a deleterious effect of this variant, suggesting impaired binding stability and selectivity for methylated DNA (Yusufzai 2000 PMID:11058114, Bao 2013 PMID:23421866). Furthermore, this variant occurs in exon 4; the vast majority of pathogenic variants are identified in exon 4 which encodes for the methyl binding domain and transcription repression domain. Loss of function has been established for this gene, but missense variants have been described as pathogenic as well. (Philippe 2006 16473305). In summary, this variant is classified as pathogenic. (less)
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Pathogenic
(Oct 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV001524903.2
First in ClinVar: Mar 22, 2021 Last updated: Dec 24, 2023 |
|
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Pathogenic
(Feb 12, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002017249.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
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Pathogenic
(Jan 15, 2024)
|
criteria provided, single submitter
Method: clinical testing
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Severe neonatal-onset encephalopathy with microcephaly
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000645667.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 158 of the MECP2 protein (p.Thr158Met). … (more)
This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 158 of the MECP2 protein (p.Thr158Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Rett syndrome and is considered one of the most common causes of the condition (PMID: 10508514, 18337588, 23421866, 26647311; RettBASE). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 11811). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MECP2 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects MECP2 function (PMID: 10852707, 11058114, 11738866, 12843318, 21831886, 26647311). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604152.3
First in ClinVar: Sep 30, 2017 Last updated: Feb 20, 2024 |
Comment:
The MECP2 c.473C>T; p.Thr158Met variant (rs28934906), is reported in the literature in multiple individuals affected with classical Rett syndrome (see link to RettBASE and references … (more)
The MECP2 c.473C>T; p.Thr158Met variant (rs28934906), is reported in the literature in multiple individuals affected with classical Rett syndrome (see link to RettBASE and references therein). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 11811), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The threonine at codon 158 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, the p.Thr158Met variant is considered to be pathogenic. References: Link to RettBASE (http://mecp2.chw.edu.au/cgi-bin/mecp2/search/process-search.cgi) (less)
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Pathogenic
(Feb 28, 2024)
|
criteria provided, single submitter
Method: curation
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Rett syndrome
(X-linked inheritance)
Affected status: unknown
Allele origin:
germline
|
Centre for Population Genomics, CPG
Accession: SCV004808964.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
Comment:
This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert … (more)
This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as pathogenic. At least the following criteria are met: This variant has been identified as a de novo occurrence in>=4 individuals with Rett syndrome without confirmation of paternity and maternity (PM6_very strong). PMID: 16225173 Has been observed in at least 5 individuals with phenotypes consistent with MECP2-related disease (PS4). PMID: 16473305 Occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). Computational prediction analysis tools suggests a deleterious impact (REVEL score>= 0.75) (PP3). This variant is absent from gnomAD (PM2_Supporting). (less)
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Pathogenic
(Dec 21, 2021)
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criteria provided, single submitter
Method: clinical testing
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MECP2-Related Disorders
Affected status: unknown
Allele origin:
unknown
|
Illumina Laboratory Services, Illumina
Accession: SCV004814138.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The MECP2 c.509C>T p.(Thr170Met) missense variant, also known as c.473C>T p.(Thr158Met), has been identified in individuals with a phenotype consistent with MECP2-related disorders and is … (more)
The MECP2 c.509C>T p.(Thr170Met) missense variant, also known as c.473C>T p.(Thr158Met), has been identified in individuals with a phenotype consistent with MECP2-related disorders and is reported as one of the most commonly occurring variants in affected individuals (Aron et al. 2019; Xiong et al. 2019; Wen et al. 2020). At least two probands in the literature were confirmed to have de novo inheritance (Xiong et al. 2019). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. The c.509C>T variant disrupts hydrogen bonding in a critical region of the C-terminal end of the methyl-DNA binding region (MDB), a well-established functional domain, which leads to compromised binding to methylated DNA and affects stability (Brown et al. 2016). This variant was identified in a de novo state in the proband. The c.509C>T variant is highly conserved through evolution. Based on the available evidence, the c.509C>T p.(Thr170Met) variant is classified as pathogenic for MECP2-related disorders. (less)
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Pathogenic
(Oct 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001246092.21
First in ClinVar: May 12, 2020 Last updated: May 12, 2024 |
Comment:
MECP2: PS2, PM1, PM2, PM5, PS3:Moderate, PP3, PS4:Supporting
Number of individuals with the variant: 10
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Pathogenic
(Jul 25, 2012)
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criteria provided, single submitter
Method: clinical testing
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Rett's disorder
(X-linked dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Athena Diagnostics
Accession: SCV000255791.2
First in ClinVar: Oct 19, 2015 Last updated: Oct 19, 2015
Comment:
X-linked dominant inheritance
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|
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Pathogenic
(Oct 22, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: not provided
Allele origin:
germline
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000280901.1
First in ClinVar: Apr 22, 2015 Last updated: Apr 22, 2015 |
|
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Pathogenic
(Sep 29, 2015)
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criteria provided, single submitter
Method: clinical testing
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Rett's disorder
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000282491.2
First in ClinVar: Dec 17, 2015 Last updated: Dec 17, 2015 |
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Likely pathogenic
(Jul 17, 2015)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
unknown
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Molecular Diagnostics Lab, Nemours Children's Health, Delaware
Accession: SCV000537196.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016
Comment:
p.Thr158Met
|
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay (present) , Mental retardation (present) , Seizures (present) , Cerebral palsey (present)
Age: 10-19 years
Sex: female
Observation 2:
Number of individuals with the variant: 1
Age: 0-9 years
Sex: female
|
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Pathogenic
(Jun 08, 2016)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
de novo
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Center of Genomic medicine, Geneva, University Hospital of Geneva
Accession: SCV000537706.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Age: 0-5 years
Sex: female
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Pathogenic
(Nov 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
germline
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
Accession: SCV000781705.1
First in ClinVar: May 03, 2018 Last updated: May 03, 2018 |
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Pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 Severe neonatal-onset encephalopathy with microcephaly Rett syndrome
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893818.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
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Likely pathogenic
(Mar 09, 2018)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
germline
|
Blueprint Genetics
Accession: SCV001426150.1
First in ClinVar: Aug 03, 2020 Last updated: Aug 03, 2020 |
|
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Pathogenic
(Aug 21, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001428510.1
First in ClinVar: Aug 17, 2020 Last updated: Aug 17, 2020 |
Number of individuals with the variant: 1
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
Accession: SCV001478268.1
First in ClinVar: Feb 07, 2021 Last updated: Feb 07, 2021 |
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV002073016.1
First in ClinVar: Feb 03, 2022 Last updated: Feb 03, 2022 |
Comment:
The missense variant p.T158M in MECP2 (NM_004992.3) has been reported in multiple patients with Rett syndrome (Das DK et al; Brown K et al).It is … (more)
The missense variant p.T158M in MECP2 (NM_004992.3) has been reported in multiple patients with Rett syndrome (Das DK et al; Brown K et al).It is the most common mutation in the Rett database.Functional studies have shown a damaging effect (Agarwal N et al). The variant has been submitted to ClinVar as Pathogenic. The p.T158M variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T158M missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 158 of MECP2 is conserved in all mammalian species. The nucleotide c.473 in MECP2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic. (less)
Clinical Features:
Global developmental delay (present) , Poor speech (present) , Hyperactivity (present) , Short stature (present)
|
|
Pathogenic
(Mar 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002318550.1
First in ClinVar: Apr 02, 2022 Last updated: Apr 02, 2022 |
Comment:
Same or different nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000011811, PMID:10508514). … (more)
Same or different nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000011811, PMID:10508514). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000143590, PMID:11269512). The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.945>=0.6, 3CNET: 0.995>=0.75). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Atypical behavior (present) , Clonus (present) , Seizure (present) , Global developmental delay (present) , Hyperreflexia (present) , Lower limb asymmetry (present) , Developmental regression … (more)
Atypical behavior (present) , Clonus (present) , Seizure (present) , Global developmental delay (present) , Hyperreflexia (present) , Lower limb asymmetry (present) , Developmental regression (present) , Poor speech (present) , Intellectual disability, mild (present) (less)
|
|
Pathogenic
(May 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
X-linked intellectual disability-psychosis-macroorchidism syndrome
Affected status: unknown
Allele origin:
germline
|
Mendelics
Accession: SCV002517600.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Neurodevelopmental delay
Affected status: yes
Allele origin:
de novo
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV002559000.1
First in ClinVar: Aug 15, 2022 Last updated: Aug 15, 2022 |
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
(X-linked dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Lifecell International Pvt. Ltd
Accession: SCV003845196.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
Comment:
A Heterozygous Missense variant c.473C>T in Exon 4 of the MECP2 gene that results in the amino acid substitution p.Thr158Met was identified. The observed variant … (more)
A Heterozygous Missense variant c.473C>T in Exon 4 of the MECP2 gene that results in the amino acid substitution p.Thr158Met was identified. The observed variant is novel in gnomAD exomes and genomes. The severity of the impact of this variant on the protein is medium, based on the effect of the protein and REVEL score . Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Pathogenic [Variant ID : 11811]. This variant has previously been reported for Rett syndrome by Lee, Stephen Sung Jae, Mimi Wan, and Uta Francke., 2001. Experimental studies have shown that this missense change affects MECP2 protein function by Ballestar, Esteban, Timur M. Yusufzai, and Alan P. Wolffe., 2000. For these reasons this variant has been classified as Pathogenic. (less)
Ethnicity/Population group: Asian
Geographic origin: India
|
|
Pathogenic
(Mar 14, 2024)
|
criteria provided, single submitter
Method: research
|
Syndromic X-linked intellectual disability Lubs type
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004801243.2
First in ClinVar: Mar 16, 2024 Last updated: Apr 06, 2024 |
|
|
Pathogenic
(Oct 07, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000845943.5
First in ClinVar: Nov 08, 2018 Last updated: May 01, 2024 |
Comment:
The c.473C>T (p.T158M) alteration is located in exon 4 (coding exon 3) of the MECP2 gene. This alteration results from a C to T substitution … (more)
The c.473C>T (p.T158M) alteration is located in exon 4 (coding exon 3) of the MECP2 gene. This alteration results from a C to T substitution at nucleotide position 473, causing the threonine (T) at amino acid position 158 to be replaced by a methionine (M). Based on data from the Genome Aggregation Database (gnomAD), the MECP2 c.473C>T alteration was not observed, with coverage at this position. The MECP2 c.473C>T (p.T158M) alteration is one of the most common pathogenic variants in MECP2, occurring at a CpG hotspot (Amir, 1999). This alteration has been identified in female patients with both classical Rett syndrome as well as atypical Rett syndrome; more mildly affected individuals have also been described with this alteration (Amir, 1999; Buyse, 2000; Huppke, 2000; Auranen, 2001; Bao, 2013; Suter, 2014). Functional analysis demonstrated that the p.T158M alteration moderately affects MeCP2's ability to bind to methylated DNA and impair selectivity for methylated DNA (Ballestar, 2000; Yusufzai, 2000). The p.T158M alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
|
|
Pathogenic
(Oct 04, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
de novo
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV005016492.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
|
|
Pathogenic
(Feb 26, 2014)
|
no assertion criteria provided
Method: curation
|
Angelman syndrome
Affected status: yes
Allele origin:
unknown
|
RettBASE
Accession: SCV000222431.1
First in ClinVar: Apr 24, 2015 Last updated: Apr 24, 2015 |
Number of individuals with the variant: 1
Sex: male
Tissue: Blood
Comment on evidence:
Not Rett synd. - Angelman syndrome
|
|
Pathogenic
(Feb 26, 2014)
|
no assertion criteria provided
Method: curation
|
Encephalopathy, neonatal severe
Affected status: yes
Allele origin:
maternal,
unknown
|
RettBASE
Accession: SCV000222432.1
First in ClinVar: Apr 22, 2015 Last updated: Apr 22, 2015 |
Observation 1:
Number of individuals with the variant: 1
Family history: Yes
Sex: male
Tissue: Brain
Comment on evidence:
Not Rett synd. - Progressive encephalopathy of neonatal onset
Observation 2:
Number of individuals with the variant: 1
Sex: male
Tissue: Blood or skin
Comment on evidence:
Not Rett synd. - Progressive encephalopathy of neonatal onset
|
|
Pathogenic
(Feb 26, 2014)
|
no assertion criteria provided
Method: curation
|
Rett syndrome
Affected status: yes
Allele origin:
unknown,
de novo,
maternal,
germline
|
RettBASE
Accession: SCV000222433.1
First in ClinVar: Apr 24, 2015 Last updated: Apr 24, 2015 |
Observation 1:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 2:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 3:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Atypical
Observation 4:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not stated
Comment on evidence:
Rett syndrome - classical
Observation 5:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 6:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 7:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 8:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 9:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 10:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 11:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 12:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 13:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 14:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 15:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 16:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 17:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 18:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 19:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 20:
Number of individuals with the variant: 1
Family history: No
Sex: male
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 21:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 22:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 23:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 24:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 25:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 26:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 27:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 28:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 29:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 30:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 31:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 32:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 33:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 34:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 35:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 36:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: brain
Comment on evidence:
Rett syndrome - Classical
Observation 37:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 38:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 39:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 40:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 41:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 42:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 43:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 44:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 45:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 46:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 47:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 48:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 49:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Forme fruste
Observation 50:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Forme fruste
Observation 51:
Number of individuals with the variant: 1
Family history: Yes
Sex: male
Tissue: blood
Comment on evidence:
Rett syndrome - male variant
Observation 52:
Number of individuals with the variant: 1
Family history: Yes
Sex: male
Tissue: blood
Comment on evidence:
Rett syndrome - male variant
Observation 53:
Number of individuals with the variant: 1
Family history: No
Sex: male
Tissue: Blood
Comment on evidence:
Rett syndrome - Male variant
Observation 54:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 55:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 56:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 57:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 58:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 59:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 60:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 61:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 62:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 63:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphoblastoid cell lines
Comment on evidence:
Rett syndrome - not certain
Observation 64:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphoblastoid cell lines
Comment on evidence:
Rett syndrome - not certain
Observation 65:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphoblastoid cell lines
Comment on evidence:
Rett syndrome - not certain
Observation 66:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 67:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 68:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 69:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 70:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 71:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 72:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 73:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 74:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 75:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 76:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 77:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 78:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 79:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 80:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 81:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Preserved speech
Observation 82:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 83:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 84:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 85:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 86:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 87:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 88:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 89:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 90:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 91:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 92:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 93:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 94:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 95:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Atypical
Observation 96:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 97:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 98:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 99:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 100:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 101:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 102:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 103:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 104:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 105:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 106:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 107:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 108:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 109:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 110:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 111:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 112:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 113:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 114:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 115:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 116:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 117:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 118:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 119:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood or fibroblasts
Comment on evidence:
Rett syndrome - classical
Observation 120:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood or fibroblasts
Comment on evidence:
Rett syndrome - classical
Observation 121:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 122:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: NK
Comment on evidence:
Rett syndrome - classical
Observation 123:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: NK
Comment on evidence:
Rett syndrome - classical
Observation 124:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - classical
Observation 125:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - classical
Observation 126:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - classical
Observation 127:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 128:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 129:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 130:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 131:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 132:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 133:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 134:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 135:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 136:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 137:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 138:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 139:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 140:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 141:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 142:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 143:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 144:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 145:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 146:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 147:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 148:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 149:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 150:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 151:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 152:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 153:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 154:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 155:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 156:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 157:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 158:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 159:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 160:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 161:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 162:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 163:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 164:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 165:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 166:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 167:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 168:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 169:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 170:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 171:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 172:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 173:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 174:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 175:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 176:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 177:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 178:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 179:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 180:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 181:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 182:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 183:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 184:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 185:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 186:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 187:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 188:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 189:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 190:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 191:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 192:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 193:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 194:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 195:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 196:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 197:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 198:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Atypical
Observation 199:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 200:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 201:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 202:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 203:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 204:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 205:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 206:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 207:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 208:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 209:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 210:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 211:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 212:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 213:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 214:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 215:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 216:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 217:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 218:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 219:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 220:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 221:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 222:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 223:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 224:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 225:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 226:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 227:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 228:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 229:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 230:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 231:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 232:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Not known
Comment on evidence:
Rett syndrome - Classical
Observation 233:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 234:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 235:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 236:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 237:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 238:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 239:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 240:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Congenital onset
Observation 241:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Forme fruste
Observation 242:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 243:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 244:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 245:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 246:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 247:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 248:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 249:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 250:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 251:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 252:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 253:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 254:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 255:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 256:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 257:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 258:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 259:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 260:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 261:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 262:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 263:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 264:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 265:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 266:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 267:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 268:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 269:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 270:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 271:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 272:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 273:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 274:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 275:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 276:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 277:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 278:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 279:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 280:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 281:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 282:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 283:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 284:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 285:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 286:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 287:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 288:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 289:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 290:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 291:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 292:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 293:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 294:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 295:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 296:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 297:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 298:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 299:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 300:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 301:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 302:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 303:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 304:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 305:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 306:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 307:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 308:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 309:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 310:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 311:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 312:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 313:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 314:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 315:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 316:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 317:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood or fibroblasts
Comment on evidence:
Rett syndrome - forme fruste
Observation 318:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - forme fruste
Observation 319:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 320:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 321:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 322:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 323:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 324:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 325:
Number of individuals with the variant: 1
Family history: No
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 326:
Number of individuals with the variant: 1
Family history: No
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 327:
Number of individuals with the variant: 1
Family history: No
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 328:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Atypical
Observation 329:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 330:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 331:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 332:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 333:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 334:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 335:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 336:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 337:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 338:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 339:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 340:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Atypical
Observation 341:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 342:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 343:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 344:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
|
|
Pathogenic
(Feb 26, 2014)
|
no assertion criteria provided
Method: curation
|
Austism susceptibility, X-linked
Affected status: yes
Allele origin:
unknown
|
RettBASE
Accession: SCV000188121.2
First in ClinVar: Aug 15, 2014 Last updated: Apr 22, 2015 |
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: lymphocytes for XCI
Comment on evidence:
Not Rett synd. - autism - pervasive developmental disorder
|
|
Pathogenic
(Jul 01, 2007)
|
no assertion criteria provided
Method: literature only
|
RETT SYNDROME
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000032815.4
First in ClinVar: Apr 04, 2013 Last updated: Mar 03, 2018 |
Comment on evidence:
In a sporadic patient with Rett syndrome (RTT; 312750), Amir et al. (1999) identified a 547C-T transition in the MECP2 gene, resulting in a thr158-to-met … (more)
In a sporadic patient with Rett syndrome (RTT; 312750), Amir et al. (1999) identified a 547C-T transition in the MECP2 gene, resulting in a thr158-to-met (T148M) substitution. Villard et al. (2000) reported a family in which a daughter had classic Rett syndrome and her 2 brothers died in infancy from severe encephalopathy (300673). The affected girl and 1 brother tested showed the T158M mutation. The unaffected carrier mother had a completely biased pattern of X-chromosome inactivation that favored expression of the normal allele. One of the affected boys showed severe mental retardation and hypotonia soon after birth and died at age 11 months. (less)
|
|
Pathogenic
(Jul 01, 2007)
|
no assertion criteria provided
Method: literature only
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000032816.4
First in ClinVar: Apr 04, 2013 Last updated: Mar 03, 2018 |
Comment on evidence:
In a sporadic patient with Rett syndrome (RTT; 312750), Amir et al. (1999) identified a 547C-T transition in the MECP2 gene, resulting in a thr158-to-met … (more)
In a sporadic patient with Rett syndrome (RTT; 312750), Amir et al. (1999) identified a 547C-T transition in the MECP2 gene, resulting in a thr158-to-met (T148M) substitution. Villard et al. (2000) reported a family in which a daughter had classic Rett syndrome and her 2 brothers died in infancy from severe encephalopathy (300673). The affected girl and 1 brother tested showed the T158M mutation. The unaffected carrier mother had a completely biased pattern of X-chromosome inactivation that favored expression of the normal allele. One of the affected boys showed severe mental retardation and hypotonia soon after birth and died at age 11 months. (less)
|
|
Pathogenic
(Apr 03, 2015)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Additional submitter:
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000804259.1
First in ClinVar: Sep 01, 2018 Last updated: Sep 01, 2018 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Autism, susceptibility to, X-linked 3
Severe neonatal-onset encephalopathy with microcephaly Syndromic X-linked intellectual disability Lubs type X-linked intellectual disability-psychosis-macroorchidism syndrome Rett syndrome
Affected status: yes
Allele origin:
unknown
|
Service de Génétique Moléculaire, Hôpital Robert Debré
Accession: SCV001450670.1
First in ClinVar: Dec 19, 2020 Last updated: Dec 19, 2020 |
Number of individuals with the variant: 2
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952757.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Pathogenic
(Apr 01, 2023)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
Accession: SCV003927962.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
|
|
Pathogenic
(Nov 02, 2023)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
Accession: SCV004101044.1
First in ClinVar: Nov 11, 2023 Last updated: Nov 11, 2023 |
|
|
Pathogenic
(May 21, 2014)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000257511.1
First in ClinVar: Dec 17, 2015 Last updated: Dec 17, 2015 |
Number of individuals with the variant: 1
Clinical Features:
Progressive deterioration of neurologic function (present) , Type 1 diabetes (present)
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001929477.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001973146.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
|
|
Pathogenic
(Feb 01, 2022)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
Accession: SCV002583391.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Rett syndrome
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000998923.2
First in ClinVar: Nov 17, 2019 Last updated: Oct 01, 2022 |
|
|
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. | Brown K | Human molecular genetics | 2016 | PMID: 26647311 |
Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study | Nature | 2015 | PMID: 25533962 |
Brief report: MECP2 mutations in people without Rett syndrome. | Suter B | Journal of autism and developmental disorders | 2014 | PMID: 23921973 |
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). | Maortua H | The Journal of molecular diagnostics : JMD | 2013 | PMID: 23810759 |
Using a large international sample to investigate epilepsy in Rett syndrome. | Bao X | Developmental medicine and child neurology | 2013 | PMID: 23421866 |
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. | Das DK | Gene | 2013 | PMID: 23262346 |
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. | Todorov T | Mutation research | 2012 | PMID: 22525432 |
Genetic and epileptic features in Rett syndrome. | Kim HJ | Yonsei medical journal | 2012 | PMID: 22476991 |
Molecular diagnostic dilemmas in Rett syndrome. | Zvereff V | Brain & development | 2012 | PMID: 22277191 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. | Psoni S | Brain & development | 2012 | PMID: 21982064 |
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. | Corbani S | Journal of intellectual disability research : JIDR | 2012 | PMID: 21954873 |
MeCP2 Rett mutations affect large scale chromatin organization. | Agarwal N | Human molecular genetics | 2011 | PMID: 21831886 |
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation. | Singleton MK | Neurobiology of disease | 2011 | PMID: 21420494 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. | Hadzsiev K | Journal of human genetics | 2011 | PMID: 21160487 |
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. | Temudo T | Brain & development | 2011 | PMID: 20116947 |
Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. | Shapiro JR | Pediatric research | 2010 | PMID: 20661168 |
Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. | Fendri-Kriaa N | Journal of child neurology | 2010 | PMID: 20631224 |
Epilepsy and the natural history of Rett syndrome. | Glaze DG | Neurology | 2010 | PMID: 20231667 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. | Monnerat LS | Brain & development | 2010 | PMID: 20031356 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients. | Lima FT | Arquivos de neuro-psiquiatria | 2009 | PMID: 19722030 |
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. | Raizis AM | The New Zealand medical journal | 2009 | PMID: 19652677 |
[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. | Li MR | Zhonghua er ke za zhi = Chinese journal of pediatrics | 2009 | PMID: 19573459 |
[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. | Li MR | Zhonghua yi xue za zhi | 2009 | PMID: 19552836 |
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. | Chapleau CA | Neurobiology of disease | 2009 | PMID: 19442733 |
A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations. | Baris I | Genetic testing and molecular biomarkers | 2009 | PMID: 19309269 |
Recent advances in MeCP2 structure and function. | Hite KC | Biochemistry and cell biology = Biochimie et biologie cellulaire | 2009 | PMID: 19234536 |
Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations. | Larimore JL | Neurobiology of disease | 2009 | PMID: 19217433 |
Rett syndrome and long-term disorder profile. | Smeets EE | American journal of medical genetics. Part A | 2009 | PMID: 19133691 |
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. | Adegbola AA | Human genetics | 2009 | PMID: 18989701 |
Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions. | Ghosh RP | The Journal of biological chemistry | 2008 | PMID: 18499664 |
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. | Neul JL | Neurology | 2008 | PMID: 18337588 |
Rett syndrome: North American database. | Percy AK | Journal of child neurology | 2007 | PMID: 18174548 |
MECP2 mutations in Serbian Rett syndrome patients. | Djarmati A | Acta neurologica Scandinavica | 2007 | PMID: 17986102 |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome. | Karall D | European journal of medical genetics | 2007 | PMID: 17881312 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. | Zahorakova D | Journal of human genetics | 2007 | PMID: 17387578 |
MECP2 mutations in males. | Villard L | Journal of medical genetics | 2007 | PMID: 17351020 |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | Li MR | Journal of human genetics | 2007 | PMID: 17089071 |
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. | Archer H | Journal of medical genetics | 2007 | PMID: 16905679 |
The MECP2 gene mutation screening in Rett syndrome patients from Croatia. | Matijević T | Annals of the New York Academy of Sciences | 2006 | PMID: 17341617 |
Male Rett phenotypes in T158M and R294X MeCP2-mutations. | Lundvall M | Neuropediatrics | 2006 | PMID: 17236109 |
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. | Kim IJ | Experimental & molecular medicine | 2006 | PMID: 16672765 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. | Philippe C | European journal of medical genetics | 2006 | PMID: 16473305 |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. | Archer HL | Journal of medical genetics | 2006 | PMID: 16183801 |
Another patient with MECP2 mutation without classic Rett syndrome phenotype. | Milani D | Pediatric neurology | 2005 | PMID: 15866439 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. | Fukuda T | Brain & development | 2005 | PMID: 15737703 |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. | Chae JH | Journal of child neurology | 2004 | PMID: 15526954 |
Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients. | Kárteszi J | American journal of medical genetics. Part A | 2004 | PMID: 15389714 |
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. | Kammoun F | Journal of medical genetics | 2004 | PMID: 15173251 |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. | Schanen C | American journal of medical genetics. Part A | 2004 | PMID: 15057977 |
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. | Kleefstra T | European journal of human genetics : EJHG | 2004 | PMID: 14560307 |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. | Smeets E | American journal of medical genetics. Part A | 2003 | PMID: 12966523 |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. | Miltenberger-Miltenyi G | Human mutation | 2003 | PMID: 12872250 |
Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. | Kudo S | Journal of medical genetics | 2003 | PMID: 12843318 |
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. | Lynch SA | Archives of disease in childhood. Fetal and neonatal edition | 2003 | PMID: 12719401 |
Mutation analysis of the MECP2 gene in patients with Rett syndrome. | Conforti FL | American journal of medical genetics. Part A | 2003 | PMID: 12567420 |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. | Yaron Y | Human mutation | 2002 | PMID: 12325033 |
Spectrum of MECP2 mutations in Rett syndrome. | Bienvenu T | Genetic testing | 2002 | PMID: 12180070 |
MECP2 gene mutation analysis in Chinese patients with Rett syndrome. | Pan H | European journal of human genetics : EJHG | 2002 | PMID: 12111643 |
Prenatal diagnosis in Rett syndrome. | Armstrong J | Fetal diagnosis and therapy | 2002 | PMID: 12065946 |
Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. | Chae JH | Journal of child neurology | 2002 | PMID: 11913567 |
Mutation analysis in Rett syndrome. | Milunsky JM | Genetic testing | 2001 | PMID: 11960578 |
Preserved speech variants of the Rett syndrome: molecular and clinical analysis. | Zappella M | American journal of medical genetics | 2001 | PMID: 11746022 |
Rett syndrome in Spain: mutation analysis and clinical correlations. | Monrós E | Brain & development | 2001 | PMID: 11738885 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. | Giunti L | Brain & development | 2001 | PMID: 11738883 |
A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. | Nielsen JB | Brain & development | 2001 | PMID: 11738879 |
Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. | Kudo S | Brain & development | 2001 | PMID: 11738866 |
Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. | Yamashita Y | Brain & development | 2001 | PMID: 11738864 |
Spectrum of MECP2 mutations in Rett syndrome. | Lee SS | Brain & development | 2001 | PMID: 11738860 |
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. | Yamada Y | Human mutation | 2001 | PMID: 11524741 |
MECP2 mutation screening in Swedish classical Rett syndrome females. | Erlandson A | European child & adolescent psychiatry | 2001 | PMID: 11469283 |
DHPLC analysis of the MECP2 gene in Italian Rett patients. | Nicolao P | Human mutation | 2001 | PMID: 11462237 |
MeCP2 mutations in children with and without the phenotype of Rett syndrome. | Hoffbuhr K | Neurology | 2001 | PMID: 11402105 |
Occurrence of Rett syndrome in boys. | Leonard H | Journal of child neurology | 2001 | PMID: 11392517 |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. | Inui K | Brain & development | 2001 | PMID: 11376998 |
Parental origin of de novo MECP2 mutations in Rett syndrome. | Girard M | European journal of human genetics : EJHG | 2001 | PMID: 11313764 |
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. | Nielsen JB | European journal of human genetics : EJHG | 2001 | PMID: 11313756 |
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. | Trappe R | American journal of human genetics | 2001 | PMID: 11309679 |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. | Vacca M | Journal of molecular medicine (Berlin, Germany) | 2001 | PMID: 11269512 |
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. | Auranen M | Neurology | 2001 | PMID: 11245712 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. | Laccone F | Human mutation | 2001 | PMID: 11241840 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. | Bourdon V | Human genetics | 2001 | PMID: 11214906 |
Functional consequences of Rett syndrome mutations on human MeCP2. | Yusufzai TM | Nucleic acids research | 2000 | PMID: 11058114 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. | Buyse IM | American journal of human genetics | 2000 | PMID: 11055898 |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. | Hampson K | Journal of medical genetics | 2000 | PMID: 10991689 |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. | Obata K | Journal of medical genetics | 2000 | PMID: 10991688 |
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. | Amano K | Journal of human genetics | 2000 | PMID: 10944854 |
Chronic osteomyelitis in patients with sickle cell disease. | Nwadiaro HC | East African medical journal | 2000 | PMID: 10944834 |
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. | Ballestar E | Biochemistry | 2000 | PMID: 10852707 |
MECP2 mutations account for most cases of typical forms of Rett syndrome. | Bienvenu T | Human molecular genetics | 2000 | PMID: 10814719 |
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. | Huppke P | Human molecular genetics | 2000 | PMID: 10814718 |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. | Cheadle JP | Human molecular genetics | 2000 | PMID: 10767337 |
Mutation screening in Rett syndrome patients. | Xiang F | Journal of medical genetics | 2000 | PMID: 10745042 |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. | Amir RE | Nature genetics | 1999 | PMID: 10508514 |
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. | Nan X | Nucleic acids research | 1993 | PMID: 8177735 |
http://mecp2.chw.edu.au/ | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MECP2 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/05fbb928-0ed0-49c4-9157-fd0660e76fdc | - | - | - | - |
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Text-mined citations for rs28934906 ...
HelpRecord last updated May 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.