ATP6V0A2, 1-BP INS, 100A AND Cutis laxa with osteodystrophy

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2012)

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:
RCV000032648.3

Allele description [Variation Report for ATP6V0A2, 1-BP INS, 100A]

ATP6V0A2, 1-BP INS, 100A

Gene:
ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12q24.3
Preferred name:
ATP6V0A2, 1-BP INS, 100A
HGVS:
    Nucleotide change:
    1-BP INS, 100A
    Links:
    OMIM: 611716.0005

    Condition(s)

    Name:
    Cutis laxa with osteodystrophy (ARCL2A)
    Synonyms:
    CUTIS LAXA WITH BONE DYSTROPHY; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY; Cutis laxa with joint laxity and retarded development; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0018163; MedGen: C0268355; OMIM: 219200

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000056411OMIMno assertion criteria providedPathogenic
    (Nov 1, 2012)
    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

    Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

    Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, et al.

    Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8.

    PubMed [citation]
    PMID:
    22773132

    Details of each submission

    From OMIM, SCV000056411.2

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

    Description

    In a Turkish patient from a consanguineous family segregating type IIA autosomal recessive cutis laxa type IIA (ARCL2A; 219200), Fischer et al. (2012) identified homozygosity for a 1-bp insertion (100_101insA) in the ATP6V0A2 gene resulting in a frameshift (Val476SfsTer499).

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

    Last Updated: Apr 12, 2021

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