CLCN5, 1-BP DEL, 2085C AND Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Clinical significance:Pathogenic (Last evaluated: Dec 7, 2010)

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:
RCV000012572.23

Allele description [Variation Report for CLCN5, 1-BP DEL, 2085C]

Gene:
CLCN5:chloride channel, voltage-sensitive 5 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
Xp11.22
HGVS:
    Nucleotide change:
    1-BP DEL, 2085C
    Links:
    OMIM: 300008.0009

    Condition(s)

    Name:
    Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
    Identifiers:
    MedGen: C1839874; OMIM: 308990; Orphanet: 1652; Orphanet: 93622
    Age of onset:
    Childhood

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000032806OMIMPathogenic
    (Dec 7, 2010)
    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

    Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

    Lloyd SE, Pearce SH, G√ľnther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV.

    J Clin Invest. 1997 Mar 1;99(5):967-74.

    PubMed [citation]
    PMID:
    9062355
    PMCID:
    PMC507905

    Details of each submission

    From OMIM, SCV000032806.1

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

    Description

    In affected members of a Japanese family with idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis (308990), Lloyd et al. (1997) identified a 1-bp deletion (2085delC) in the CLCN5 gene, resulting in a frameshift and premature termination of the protein at codon 699.

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

    Last Updated: Jun 27, 2014

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