RAPSN, 5-BP INS AND Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2011)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000008514.1

Allele description [Variation Report for RAPSN, 5-BP INS]

Gene:
RAPSN:receptor-associated protein of the synapse [Gene - OMIM]
Variant type:
Insertion
Cytogenetic location:
11p11.2-p11.1
HGVS:
    Nucleotide change:
    5-BP INS
    Links:
    OMIM: 601592.0003

    Condition(s)

    Name:
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS1D)
    Synonyms:
    Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, type id; CMS1d; See all synonyms [MedGen]
    Identifiers:
    MedGen: C1837091; OMIM: 608931; Orphanet: 590
    Age of onset:
    Neonatal/infancy
    Prevalence:
    1-9 / 1 000 000 590

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000028722OMIMPathogenic
    (Mar 1, 2011)
    germlineliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

    Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M.

    Am J Hum Genet. 2002 Apr;70(4):875-85. Epub 2002 Jan 14.

    PubMed [citation]
    PMID:
    11791205
    PMCID:
    PMC379116

    Details of each submission

    From OMIM, SCV000028722.1

    #EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    See 601592.0001 and Ohno et al. (2002).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Jun 27, 2014

    Write to the Help Desk