CDKL5, IVSAS13, G-A, -1 AND Early infantile epileptic encephalopathy 2

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2004)

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:
RCV000012250.12

Allele description [Variation Report for CDKL5, IVSAS13, G-A, -1]

CDKL5, IVSAS13, G-A, -1

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22
Preferred name:
CDKL5, IVSAS13, G-A, -1
HGVS:
    Nucleotide change:
    IVSAS13, G-A, -1
    Links:
    OMIM: 300203.0002

    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
    SCV000032484OMIMno assertion criteria providedPathogenic
    (Dec 1, 2004)
    germlineliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

    Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, G├ęcz J.

    Am J Hum Genet. 2004 Dec;75(6):1079-93. Epub 2004 Oct 18.

    PubMed [citation]
    PMID:
    15492925
    PMCID:
    PMC1182143

    Details of each submission

    From OMIM, SCV000032484.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In a 28-year-old woman (family 2) with developmental and epileptic encephalopathy (DEE2; 300672), Weaving et al. (2004) identified a G-to-A transition in intron 13 of the CDKL5 gene, resulting in a splice site mutation. The patient had onset of severe spasms at about 6 weeks of age and developed intractable seizures during childhood. Her affected half sister with the mutation had a diagnosis of Rett syndrome. She did not have seizures.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 20, 2021

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