SLC37A4, 4-BP DEL, 2-BP INS, NT1094 AND Glucose-6-phosphate transport defect

Clinical significance:Pathogenic (Last evaluated: Jul 20, 1998)

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:
RCV000007333.3

Allele description [Variation Report for SLC37A4, 4-BP DEL, 2-BP INS, NT1094]

SLC37A4, 4-BP DEL, 2-BP INS, NT1094

Gene:
SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q23
Preferred name:
SLC37A4, 4-BP DEL, 2-BP INS, NT1094
HGVS:
    Nucleotide change:
    4-BP DEL, 2-BP INS, NT1094
    Links:
    OMIM: 602671.0004

    Condition(s)

    Name:
    Glucose-6-phosphate transport defect (GSD1B)
    Synonyms:
    Glycogen storage disease type 1B; GSD Ib
    Identifiers:
    MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000027531OMIMno assertion criteria providedPathogenic
    (Jul 20, 1998)
    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

    Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

    Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K.

    Biochem Biophys Res Commun. 1998 Jul 20;248(2):426-31.

    PubMed [citation]
    PMID:
    9675154

    Details of each submission

    From OMIM, SCV000027531.2

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

    Description

    In a Japanese patient with glycogen storage disease Ib (GSD1B; 232220), Kure et al. (1998) found homozygosity for a deletion/insertion mutation of the G6PT1 gene. GCTG at nucleotides 1094-1097 were deleted and replaced by TC.

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

    Last Updated: Jan 1, 2021

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