POMT1, GLN590HIS AND MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1

Clinical significance:Pathogenic (Last evaluated: May 23, 2006)

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:
RCV000003405.5

Allele description [Variation Report for POMT1, GLN590HIS]

POMT1, GLN590HIS

Gene:
POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
Variation
Cytogenetic location:
9q34.1
Preferred name:
POMT1, GLN590HIS
Other names:
Q590H
HGVS:
    Protein change:
    GLN590HIS
    Links:
    OMIM: 607423.0012

    Condition(s)

    Name:
    MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000023563OMIMno assertion criteria providedPathogenic
    (May 23, 2006)
    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

    Expanding the clinical spectrum of POMT1 phenotype.

    D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E.

    Neurology. 2006 May 23;66(10):1564-7; discussion 1461.

    PubMed [citation]
    PMID:
    16717220

    Details of each submission

    From OMIM, SCV000023563.4

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

    Description

    For discussion of the gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in patients with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0010.

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

    Last Updated: Aug 22, 2020

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