NM_001323289.2(CDKL5):c.99+1G>T AND Early infantile epileptic encephalopathy 2

Clinical significance:Pathogenic (Last evaluated: Mar 13, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000170058.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.99+1G>T]

NM_001323289.2(CDKL5):c.99+1G>T

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.99+1G>T
HGVS:
  • NC_000023.11:g.18510855G>T
  • NG_008475.1:g.90251G>T
  • NM_001037343.2:c.99+1G>T
  • NM_001323289.2:c.99+1G>TMANE SELECT
  • NM_003159.2:c.99+1G>T
  • NM_003159.3:c.99+1G>T
  • NC_000023.10:g.18528975G>T
Links:
RettBASE (CDKL5): 60; dbSNP: rs267608421
NCBI 1000 Genomes Browser:
rs267608421
Molecular consequence:
  • NM_001037343.2:c.99+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001323289.2:c.99+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003159.2:c.99+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003159.3:c.99+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Early infantile epileptic encephalopathy 2 (DEE2)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 2
Identifiers:
MONDO: MONDO:0010396; MedGen: C4750718; Orphanet: 1934; Orphanet: 3451; OMIM: 300672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222367RettBASEno assertion criteria providedPathogenic
(Mar 13, 2014)
de novocuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedcuration

Citations

PubMed

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, SCV000222367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)

Description

"Not Rett syndrome - severe encephalopathy and refractory epilepsy"

Description

Bahi-Buisson et al 2008 showed skipping of exon 3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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