SLC26A4, 1-BP DEL, 1565G AND Pendred syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1997)

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:
RCV000005082.4

Allele description [Variation Report for SLC26A4, 1-BP DEL, 1565G]

SLC26A4, 1-BP DEL, 1565G

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q31
Preferred name:
SLC26A4, 1-BP DEL, 1565G
HGVS:
    Nucleotide change:
    1-BP DEL, 1565G
    Links:
    OMIM: 605646.0002

    Condition(s)

    Name:
    Pendred syndrome (PDS)
    Synonyms:
    HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000025258OMIMno assertion criteria providedPathogenic
    (Dec 1, 1997)
    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

    Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

    Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED.

    Nat Genet. 1997 Dec;17(4):411-22.

    PubMed [citation]
    PMID:
    9398842

    Details of each submission

    From OMIM, SCV000025258.3

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

    Description

    In a family with Pendred syndrome (PDS; 274600), Everett et al. (1997) demonstrated that affected members had a homozygous deletion of a single G at position 1565 (1565delG) of the SLC26A4 gene, which was predicted to result either in a frameshift and premature termination of the pendrin protein or in aberrant splicing of the mRNA, or both. The deleted G is either part of or immediately adjacent to a splice donor site; thus, the precise effect of the mutation could not be predicted with certainty.

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

    Last Updated: Oct 7, 2021

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