LAMP2, 2-BP DEL, 1097AA AND Danon disease

Clinical significance:Pathogenic (Last evaluated: Oct 16, 2021)

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:
RCV000010654.4

Allele description [Variation Report for LAMP2, 2-BP DEL, 1097AA]

LAMP2, 2-BP DEL, 1097AA

Gene:
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq24
Preferred name:
LAMP2, 2-BP DEL, 1097AA
HGVS:
    Nucleotide change:
    2-BP DEL, 1097AA
    Links:
    OMIM: 309060.0001

    Condition(s)

    Name:
    Danon disease
    Synonyms:
    PSEUDOGLYCOGENOSIS II; GSD IIb; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0010281; MedGen: C0878677; Orphanet: 34587; OMIM: 300257

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000030880OMIMno assertion criteria providedPathogenic
    (Oct 16, 2021)
    germlineliterature only

    Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406: 906-910, 2000.

    Summary from all submissions

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

    Details of each submission

    From OMIM, SCV000030880.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature onlynot provided

    Description

    In a Japanese male (patient 1) with Danon disease (300257) diagnosed after muscle biopsy, Nishino et al. (2000) identified a 2-bp deletion (1097delAA) in exon 9b of the LAMP2 gene, resulting in a frameshift.

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

    Last Updated: Oct 21, 2021

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