HK1, 96-BP DEL AND Hemolytic anemia due to hexokinase deficiency

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1995)

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:
RCV000016050.27

Allele description [Variation Report for HK1, 96-BP DEL]

HK1, 96-BP DEL

Gene:
HK1:hexokinase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q22
Preferred name:
HK1, 96-BP DEL
HGVS:
    Nucleotide change:
    96-BP DEL
    Links:
    OMIM: 142600.0001

    Condition(s)

    Name:
    Hemolytic anemia due to hexokinase deficiency
    Synonyms:
    HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY; Hexokinase deficiency hemolytic anemia
    Identifiers:
    MONDO: MONDO:0009340; MedGen: C3150343; Orphanet: 90031; OMIM: 235700

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000036317OMIMno assertion criteria providedPathogenic
    (Jan 1, 1995)
    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

    Hexokinase mutations that produce nonspherocytic hemolytic anemia.

    Bianchi M, Magnani M.

    Blood Cells Mol Dis. 1995;21(1):2-8.

    PubMed [citation]
    PMID:
    7655856

    Details of each submission

    From OMIM, SCV000036317.3

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

    Description

    In a patient with nonspherocytic hemolytic anemia with the so-called HK-Melzo variant of hexokinase deficiency (235700), Bianchi and Magnani (1995) demonstrated compound heterozygosity for mutations in the HK1 gene: a 96-bp deletion of nucleotides 577 to 672 and a 1667T-C transition, resulting in a leu529-to-ser substitution (142600.0002).

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

    Last Updated: Jun 14, 2021

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