SLC26A4, IVS8, C-G, 1002-4 AND Pendred syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2003)

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:
RCV000005104.3

Allele description [Variation Report for SLC26A4, IVS8, C-G, 1002-4]

SLC26A4, IVS8, C-G, 1002-4

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31
Preferred name:
SLC26A4, IVS8, C-G, 1002-4
HGVS:
    Nucleotide change:
    IVS8, C-G, 1002-4
    Links:
    OMIM: 605646.0022

    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
    SCV000025280OMIMno assertion criteria providedPathogenic
    (Oct 1, 2003)
    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

    Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.

    Massa G, Jaenen N, de Varebeke SJ, Peeters N, Wuyts W.

    Eur J Pediatr. 2003 Oct;162(10):674-7. Epub 2003 Aug 15.

    PubMed [citation]
    PMID:
    12920581

    Details of each submission

    From OMIM, SCV000025280.2

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

    Description

    In a 4-year-old boy with Pendred syndrome (PDS; 274600) who presented with a solitary thyroid nodule, Massa et al. (2003) identified homozygosity for a splice site mutation (1002-4C-G) in intron 8 of the SLC26A4 gene, resulting in a putative truncated protein.

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

    Last Updated: Oct 7, 2021

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