NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) AND Atypical Rett syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 13, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000133348.3

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)]

NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)

Gene:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)

HGVS:

NC_000023.11:g.18619933del
NG_008475.1:g.199329del
NM_001037343.2:c.2343del
NM_001323289.2:c.2343delMANE SELECT
NM_003159.3:c.2343del
NP_001032420.1:p.Arg781fs
NP_001310218.1:p.Arg781fs
NP_003150.1:p.Arg781fs
NC_000023.10:g.18638052del
NC_000023.10:g.18638053del
NM_003159.2:c.2343delG

Protein change:

R781fs

Links:

RettBASE (CDKL5): 13; dbSNP: rs62643614

NCBI 1000 Genomes Browser:

rs62643614

Molecular consequence:

NM_001037343.2:c.2343del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323289.2:c.2343del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003159.3:c.2343del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Atypical Rett syndrome
Synonyms:: Rett like syndrome
Identifiers:: MONDO: MONDO:0017746; MedGen: C2748910

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188358	RettBASE	no assertion criteria provided	Pathogenic (Mar 13, 2014)	de novo	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188358

RettBASE

no assertion criteria provided

Pathogenic
(Mar 13, 2014)

de novo

curation

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	curation

Citations

PubMed

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.

PubMed [citation]

PMID:: 15917271

Details of each submission

From RettBASE, SCV000188358.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	curation	PubMed (1)

Description

"Rett syndrome - early seizure"

PubMed [ID: 15917271]

#	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

Last Updated: Mar 5, 2024

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