NM_001323289.2(CDKL5):c.145+2T>C 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:: RCV000169999.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.145+2T>C]

NM_001323289.2(CDKL5):c.145+2T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_001323289.2(CDKL5):c.145+2T>C

HGVS:

NC_000023.11:g.18564524T>C
NG_008475.1:g.143920T>C
NM_001037343.2:c.145+2T>C
NM_001323289.2:c.145+2T>CMANE SELECT
NM_003159.3:c.145+2T>C
NC_000023.10:g.18582644T>C
NM_003159.2:c.145+2T>C

Links:

RettBASE (CDKL5): 48; dbSNP: rs267608430

NCBI 1000 Genomes Browser:

rs267608430

Molecular consequence:

NM_001037343.2:c.145+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001323289.2:c.145+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_003159.3:c.145+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000222305	RettBASE	no assertion criteria provided	Pathogenic (Mar 13, 2014)	de novo	curation	PubMed (2) [See all records that cite these PMIDs] 18063413, 18790821

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222305

RettBASE

no assertion criteria provided

Pathogenic
(Mar 13, 2014)

de novo

curation

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	2	not provided	not provided	2	not provided	curation

Citations

PubMed

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.

Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, Russo S, Veneselli E.

Epilepsy Behav. 2008 Feb;12(2):326-31. Epub 2007 Dec 11. Review.

PubMed [citation]

PMID:: 18063413

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T.

Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12.

PubMed [citation]

PMID:: 18790821

Details of each submission

From RettBASE, SCV000222305.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	curation	PubMed (2)
2	not provided	1	not provided	not provided	curation	PubMed (2)

Description

"Rett syndrome - early-onset seizure"

PubMed [ID: 18063413]

"Rett syndrome - atypical"

PubMed [ID: 18790821]

Description

Bahi-Buisson et al 2008 suggested transcript unstable

#	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
2	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 9, 2023

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