NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND Rett syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (23 submissions)
- Last evaluated:
- Mar 13, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000012602.65
Allele description [Variation Report for NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)]
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
- Gene:
- MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- Xq28
- Genomic location:
- Preferred name:
- NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
- Other names:
- p.R255*:CGA>TGA; NM_001110792.2(MECP2):c.799C>T; p.Arg267Ter; p.Arg255Ter
- HGVS:
- NC_000023.11:g.154031065G>A
- NG_007107.3:g.111039C>T
- NM_001110792.2:c.799C>TMANE SELECT
- NM_001316337.2:c.484C>T
- NM_001369391.2:c.484C>T
- NM_001369392.2:c.484C>T
- NM_001369393.2:c.484C>T
- NM_001369394.2:c.484C>T
- NM_001386137.1:c.94C>T
- NM_001386138.1:c.94C>T
- NM_001386139.1:c.94C>T
- NM_004992.4:c.763C>T
- NP_001104262.1:p.Arg267Ter
- NP_001303266.1:p.Arg162Ter
- NP_001356320.1:p.Arg162Ter
- NP_001356321.1:p.Arg162Ter
- NP_001356322.1:p.Arg162Ter
- NP_001356323.1:p.Arg162Ter
- NP_001373066.1:p.Arg32Ter
- NP_001373067.1:p.Arg32Ter
- NP_001373068.1:p.Arg32Ter
- NP_004983.1:p.Arg255Ter
- NP_004983.1:p.Arg255Ter
- LRG_764t1:c.799C>T
- LRG_764t2:c.763C>T
- AJ132917.1:c.763C>T
- LRG_764:g.111039C>T
- LRG_764p1:p.Arg267Ter
- LRG_764p2:p.Arg255Ter
- NC_000023.10:g.153296516G>A
- NG_007107.2:g.111063C>T
- NM_001110792.1:c.799C>T
- NM_004992.3:c.763C>T
- NM_004992.4:c.763C>T
- NP_004983.1:p.Arg255*
- p.(Arg255*)
- p.Arg255X
This HGVS expression did not pass validation- Protein change:
- R162*; ARG255TER
- Links:
- OMIM: 300005.0021; dbSNP: rs61749721
- NCBI 1000 Genomes Browser:
- rs61749721
- Molecular consequence:
- NM_001110792.2:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001316337.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001369391.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001369392.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001369393.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001369394.2:c.484C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001386137.1:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001386138.1:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001386139.1:c.94C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_004992.4:c.763C>T - nonsense - [Sequence Ontology: SO:0001587]
- Observations:
- 1
Condition(s)
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000032837 | OMIM | no assertion criteria provided | Pathogenic (Mar 11, 2008) | germline | literature only | |
| SCV000222436 | RettBASE | no assertion criteria provided | Pathogenic (Dec 5, 2013) | germline, de novo, unknown | curation | PubMed (49) |
| SCV000247996 | Genetic Services Laboratory, University of Chicago | criteria provided, single submitter (ACMG Guidelines, 2007) | Pathogenic (Feb 8, 2013) | germline | clinical testing | |
| SCV000257514 | Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital | no assertion criteria provided | Pathogenic (Oct 1, 2014) | germline | clinical testing | |
| SCV000282496 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Oct 20, 2015) | germline | clinical testing | |
| SCV000494538 | Neurogenetics Laboratory - MEYER, AOU Meyer | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic (Nov 16, 2016) | de novo | clinical testing | |
| SCV000537189 | Molecular Diagnostics Lab, Nemours Children's Health, Delaware | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jul 15, 2015) | unknown | clinical testing | |
| SCV000537794 | Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | no assertion criteria provided | Pathogenic | germline | clinical testing | |
| SCV000680025 | Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jul 28, 2017) | unknown | clinical testing | |
| SCV000803887 | Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3 | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 13, 2017) | de novo | clinical testing | |
| SCV000998925 | GeneReviews | no classification provided | not provided | germline | literature only | |
| SCV001448874 | Knight Diagnostic Laboratories, Oregon Health and Sciences University | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jun 15, 2017) | germline | clinical testing | |
| SCV001451967 | Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic | de novo | research | |
| SCV001984846 | Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jun 19, 2020) | germline | clinical testing | |
| SCV002058698 | 3billion | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jan 3, 2022) | germline | clinical testing | PubMed (1) PMID:10508514, |
| SCV002060984 | Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital | no assertion criteria provided | Pathogenic | de novo | case-control | |
| SCV002525691 | Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 18, 2019) | germline | clinical testing | |
| SCV002579873 | MGZ Medical Genetics Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (May 6, 2022) | germline | clinical testing | |
| SCV003840178 | Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University | no assertion criteria provided | Pathogenic | de novo | clinical testing | |
| SCV004100344 | Neuberg Centre For Genomic Medicine, NCGM | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic | germline | clinical testing | |
| SCV004232188 | Centre for Population Genomics, CPG | criteria provided, single submitter (McKnight et al. (Hum Mutat. 2022)) | Pathogenic (Jan 9, 2024) | germline | curation | |
| SCV005049756 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Mar 13, 2024) | unknown | clinical testing | |
| SCV005088883 | Breakthrough Genomics, Breakthrough Genomics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Feb 24, 2021) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | de novo | yes | 62 | not provided | not provided | 62 | No | clinical testing, curation |
| not provided | de novo | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, case-control |
| not provided | germline | yes | 5 | not provided | not provided | 4 | Yes | clinical testing, curation |
| not provided | germline | not provided | not provided | not provided | not provided | not provided | not provided | literature only |
| not provided | germline | unknown | 2 | not provided | not provided | 1 | not provided | clinical testing, literature only, curation |
| not provided | unknown | yes | 185 | 1 | not provided | 185 | No | clinical testing, curation |
| not provided | unknown | unknown | 1 | not provided | not provided | not provided | not provided | clinical testing |
| North Indian | de novo | yes | 1 | not provided | not provided | not provided | not provided | research |
Citations
PubMed
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U.
Am J Hum Genet. 1999 Dec;65(6):1520-9.
PubMed [citation]
- PMID:
- 10577905
- PMCID:
- PMC1288362
Mutation screening in Rett syndrome patients.
Xiang F, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.
J Med Genet. 2000 Apr;37(4):250-5.
PubMed [citation]
- PMID:
- 10745042
- PMCID:
- PMC1734556
Details of each submission
From OMIM, SCV000032837.3
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | literature only | PubMed (5) |
Description
In a patient with sporadic Rett syndrome (RTT; 312750), Amir et al. (1999) identified an 837C-T transition in the MECP2 gene, resulting in a nonsense mutation arg255-to-ter (R255X). Cheadle et al. (2000), Bienvenu et al. (2000), and Huppke et al. (2000) each found an R255X mutation in the methyl-CpG-binding protein in multiple patients with Rett syndrome.
By analysis of genotype/phenotype correlations of Rett syndrome cases reported in a large global database, Bebbington et al. (2008) found that R270X (300005.0005) and R255X were associated with the most severe phenotype.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | not provided | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From RettBASE, SCV000222436.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 2 | not provided | 1 | not provided | Yes | curation | PubMed (49) |
| 3 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 4 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 5 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 6 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 7 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 8 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 9 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 10 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 11 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 12 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 13 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 14 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 15 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 16 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 17 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 18 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 19 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 20 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 21 | not provided | 1 | not provided | Yes | curation | PubMed (49) |
| 22 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 23 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 24 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 25 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 26 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 27 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 28 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 29 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 30 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 31 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 32 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 33 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 34 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 35 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 36 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 37 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 38 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 39 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 40 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 41 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 42 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 43 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 44 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 45 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 46 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 47 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 48 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 49 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 50 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 51 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 52 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 53 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 54 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 55 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 56 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 57 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 58 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 59 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 60 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 61 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 62 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 63 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 64 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 65 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 66 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 67 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 68 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 69 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 70 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 71 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 72 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 73 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 74 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 75 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 76 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 77 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 78 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 79 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 80 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 81 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 82 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 83 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 84 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 85 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 86 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 87 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 88 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 89 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 90 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 91 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 92 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 93 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 94 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 95 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 96 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 97 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 98 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 99 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 100 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 101 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 102 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 103 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 104 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 105 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 106 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 107 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 108 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 109 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 110 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 111 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 112 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 113 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 114 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 115 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 116 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 117 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 118 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 119 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 120 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 121 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 122 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 123 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 124 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 125 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 126 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 127 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 128 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 129 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 130 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 131 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 132 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 133 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 134 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 135 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 136 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 137 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 138 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 139 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 140 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 141 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 142 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 143 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 144 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 145 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 146 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 147 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 148 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 149 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 150 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 151 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 152 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 153 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 154 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 155 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 156 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 157 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 158 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 159 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 160 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 161 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 162 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 163 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 164 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 165 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 166 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 167 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 168 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 169 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 170 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 171 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 172 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 173 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 174 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 175 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 176 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 177 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 178 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 179 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 180 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 181 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 182 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 183 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 184 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 185 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 186 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 187 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 188 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 189 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 190 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 191 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 192 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 193 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 194 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 195 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 196 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 197 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 198 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 199 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 200 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 201 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 202 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 203 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 204 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 205 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 206 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 207 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 208 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 209 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 210 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 211 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 212 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 213 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 214 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 215 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 216 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 217 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 218 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 219 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 220 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 221 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 222 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 223 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 224 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 225 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 226 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 227 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 228 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 229 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 230 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 231 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 232 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 233 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 234 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 235 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 236 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 237 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 238 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 239 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 240 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 241 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 242 | not provided | 1 | not provided | No | curation | PubMed (49) |
| 243 | not provided | 1 | not provided | Yes | curation | PubMed (49) |
| 244 | not provided | 1 | not provided | Yes | curation | PubMed (49) |
| 245 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 246 | not provided | 1 | not provided | not provided | curation | PubMed (49) |
| 247 | not provided | 1 | not provided | No | curation | PubMed (49) |
Description
Rett syndrome
Rett syndrome - Atypical
Rett syndrome - atypical
Rett syndrome - atypical
Rett syndrome - atypical
Rett syndrome - atypical
Rett syndrome - Atypical
Rett syndrome - Atypical
Rett syndrome - Atypical
Rett syndrome - Atypical
Rett syndrome - Atypical
Rett syndrome - classical
Rett syndrome - classical
Rett syndrome - classical
Rett syndrome - classical
Rett syndrome - classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Classical
Rett syndrome - Congenital onset
Rett syndrome - Congenital onset
Rett syndrome - Forme fruste
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 2 | germline | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 3 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 4 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 5 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 6 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 7 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 8 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 9 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 10 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 11 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 12 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 13 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 14 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 15 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 16 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 17 | unknown | yes | 1 | lymphocytes | not provided | 1 | not provided | not provided | not provided | |
| 18 | de novo | yes | 1 | Not known | not provided | 1 | not provided | not provided | not provided | |
| 19 | de novo | yes | 1 | Not known | not provided | 1 | not provided | not provided | not provided | |
| 20 | unknown | yes | 1 | Not known | not provided | 1 | not provided | not provided | not provided | |
| 21 | germline | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 22 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 23 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 24 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 25 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 26 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 27 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 28 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 29 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 30 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 31 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 32 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 33 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 34 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 35 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 36 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 37 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 38 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 39 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 40 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 41 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 42 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 43 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 44 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 45 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 46 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 47 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 48 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 49 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 50 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 51 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 52 | de novo | yes | 1 | Not known | not provided | 1 | not provided | not provided | not provided | |
| 53 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 54 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 55 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 56 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 57 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 58 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 59 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 60 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 61 | unknown | yes | 1 | brain | not provided | 1 | not provided | not provided | not provided | |
| 62 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 63 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 64 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 65 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 66 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 67 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 68 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 69 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 70 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 71 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 72 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 73 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 74 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 75 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 76 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 77 | unknown | yes | 1 | lymphocytes | not provided | 1 | not provided | not provided | not provided | |
| 78 | unknown | yes | 1 | lymphocytes | not provided | 1 | not provided | not provided | not provided | |
| 79 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 80 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 81 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 82 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 83 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 84 | unknown | yes | 1 | not certain | not provided | 1 | not provided | not provided | not provided | |
| 85 | unknown | yes | 1 | not certain | not provided | 1 | not provided | not provided | not provided | |
| 86 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 87 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 88 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 89 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 90 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 91 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 92 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 93 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 94 | unknown | yes | 1 | lymphocytes | not provided | 1 | not provided | not provided | not provided | |
| 95 | unknown | yes | 1 | lymphocytes | not provided | 1 | not provided | not provided | not provided | |
| 96 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 97 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 98 | de novo | yes | 1 | blood or fibroblasts | not provided | 1 | not provided | not provided | not provided | |
| 99 | de novo | yes | 1 | blood or fibroblasts | not provided | 1 | not provided | not provided | not provided | |
| 100 | de novo | yes | 1 | blood or fibroblasts | not provided | 1 | not provided | not provided | not provided | |
| 101 | de novo | yes | 1 | blood or fibroblasts | not provided | 1 | not provided | not provided | not provided | |
| 102 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 103 | de novo | yes | 1 | NK | not provided | 1 | not provided | not provided | not provided | |
| 104 | de novo | yes | 1 | not known | not provided | 1 | not provided | not provided | not provided | |
| 105 | de novo | yes | 1 | not known | not provided | 1 | not provided | not provided | not provided | |
| 106 | de novo | yes | 1 | not known | not provided | 1 | not provided | not provided | not provided | |
| 107 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 108 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 109 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 110 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 111 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 112 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 113 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 114 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 115 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 116 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 117 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 118 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 119 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 120 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 121 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 122 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 123 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 124 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 125 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 126 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 127 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 128 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 129 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 130 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 131 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 132 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 133 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 134 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 135 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 136 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 137 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 138 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 139 | de novo | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 140 | de novo | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 141 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 142 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 143 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 144 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 145 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 146 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 147 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 148 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 149 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 150 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 151 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 152 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 153 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 154 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 155 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 156 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 157 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 158 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 159 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 160 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 161 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 162 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 163 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 164 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 165 | de novo | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 166 | de novo | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 167 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 168 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 169 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 170 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 171 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 172 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 173 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 174 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 175 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 176 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 177 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 178 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 179 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 180 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 181 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 182 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 183 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 184 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 185 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 186 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 187 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 188 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 189 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 190 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 191 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 192 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 193 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 194 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 195 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 196 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 197 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 198 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 199 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 200 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 201 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 202 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 203 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 204 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 205 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 206 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 207 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 208 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 209 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 210 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 211 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 212 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 213 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 214 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 215 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 216 | unknown | yes | 1 | not known | not provided | 1 | not provided | not provided | not provided | |
| 217 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 218 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 219 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 220 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 221 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 222 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 223 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 224 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 225 | unknown | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 226 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 227 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 228 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 229 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 230 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 231 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 232 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 233 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 234 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 235 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 236 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 237 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 238 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 239 | de novo | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 240 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 241 | de novo | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 242 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 243 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 244 | unknown | yes | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 245 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 246 | unknown | yes | 1 | Blood or skin | not provided | 1 | not provided | not provided | not provided | |
| 247 | unknown | yes | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
From Genetic Services Laboratory, University of Chicago, SCV000247996.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000257514.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
| 2 | not provided | 1 | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 2 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000282496.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This nonsense variant is predicted to cause a truncated protein, which is commonly known mechanism for disease. Variant is absent from large and broad cohorts of the ExAC project while it has been reported in at least ten RTT patients. Many clinical labs and databases classify this variant as pathogenic. Functional studies showed that variant led to deficient transcriptional repression, decreased binding to methylated DNA, and impaired microtubule stability in astrocytes. Considering all, this variant has been classified as pathogenic.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Neurogenetics Laboratory - MEYER, AOU Meyer, SCV000494538.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | no | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | de novo | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
From Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV000537189.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (6) |
| 2 | not provided | 1 | not provided | not provided | clinical testing | PubMed (6) |
Description
Developmental arrest; Repeated hand to mouth movements; Microcephaly; Seizures; Normal development to 6 months of age
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
| 2 | unknown | unknown | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000537794.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, SCV000680025.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
A heterozygous nonsense variant was identified, NM_004992.3(MECP2):c.763C>T in exon 4 of the MECP2. This nonsense variant is predicted to create a change of an arginine to a stop at amino acid position 255, NM_004992.3(MECP2):p.(Arg255*). Previous studies have shown that this results in loss of function through protein truncation (Yusufzai TM. et al, 2000). This variant is not present in the gnomAD population database and it has been previously reported multiple times in patients with Rett Syndrome (ClinVar). Additionally, functional studies showed that this variant causes loss of MECP2 transcription repression and DNA binding functions (Yusufzai TM. et al, 2000) and affects microtubule dynamics in astrocytes (Delépine C. et al,2013). Additionally, other truncating variants downstream of c.763C>T in MECP2 have been reported as pathogenic in individuals with this condition (ClinVar). Based on current information, this variant has been classified as PATHOGENIC.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | yes | 1 | Blood | not provided | not provided | not provided | 1 | not provided | |
From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3, SCV000803887.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | de novo | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From GeneReviews, SCV000998925.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | literature only | PubMed (4) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448874.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
From Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, SCV001451967.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | North Indian | 1 | not provided | not provided | research | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | de novo | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV001984846.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant is also referred to in the literature as c.763C>T (p.Arg255Ter) due to use of a different reference transcript (NM_004992.3). This nonsense variant found in exon 3 of 3 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a heterozygous change in multiple unrelated individuals with classic or atypical Rett syndrome (PMID: 23270700, 28135719, 17089071, 10508514, 31535341). Functional studies have shown that this nonsense change results in a truncated protein with impaired microtubule stability and interferes with transcriptional repression (PMID: 23238081, 11058114). In addition, a mouse model containing this variant recapitulates a Rett syndrome-like phenotype (PMID: 25634563). It is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.799C>T (p.Arg267Ter) variant is classified as Pathogenic.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From 3billion, SCV002058698.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
Description
Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000011829, PMID:10508514). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25533962, PS2_S). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
From Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, SCV002060984.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | case-control | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | de novo | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002525691.3
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From MGZ Medical Genetics Center, SCV002579873.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
From Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University, SCV003840178.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | de novo | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Neuberg Centre For Genomic Medicine, NCGM, SCV004100344.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
The stop gained p.R255* in MECP2 (NM_004992.4) has been reported reported in many individuals affected with Rett syndrome, including several de novo observations (Olivia Knight et al 2013). Experimental studies have shown that this nonsense change results in a truncated protein with impaired microtubule stability and transcriptional repression (Chloe Delepine et al, 2013; T M Yusufzai wt al 2020). The variant has been reported in ClinVar as Pathogenic/Likely Pathogenic. The p.R255* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Pathogenic.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Centre for Population Genomics, CPG, SCV004232188.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
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 is absent from gnomAD (PM2_Supporting). Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). Has been observed in at least 5 individuals with phenotypes consistent with MECP2-related disease (PS4)(PP4). Is a common, recurrent pathogenic variant ,identified as a de novo occurrence in at least one individual with Rett syndrome (PM6).(PMID: 20301670 , ClinVar database Variation ID: 11829)
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Baylor Genetics, SCV005049756.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Breakthrough Genomics, Breakthrough Genomics, SCV005088883.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant was previously reported in multiple unrelated individuals with Rett syndrome [PMID: 23270700, 21982064, 23810759,10508514, 17089071] including several de novo observations. This variant was classified a pathogenic [PMID: 23810759] and reported to be associated with bone disease severity in subjects with Rett syndrome [ PMID: 32005172]. In-vitro functional studies have shown that this nonsense change results in a truncated protein with impaired microtubule stability and transcriptional repression [PMID: 23238081, 11058114]. In addition, mouse models harboring this variant recapitulates Rett syndrome-like phenotypes [PMID: 25634563, 32927061].
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Oct 13, 2024
PubMed [ID: 10508514]