NTRK1, 1-BP INS, 1926T AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Jun 19, 2000)

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:
RCV000013102.27

Allele description [Variation Report for NTRK1, 1-BP INS, 1926T]

NTRK1, 1-BP INS, 1926T

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q21-q22
Preferred name:
NTRK1, 1-BP INS, 1926T
HGVS:
    Nucleotide change:
    1-BP INS, 1926T
    Links:
    OMIM: 191315.0010

    Condition(s)

    Name:
    Hereditary insensitivity to pain with anhidrosis (CIPA)
    Synonyms:
    FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000033349OMIMno assertion criteria providedPathogenic
    (Jun 19, 2000)
    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

    Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

    Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.

    Am J Med Genet. 2000 Jun 19;92(5):353-60.

    PubMed [citation]
    PMID:
    10861667

    Details of each submission

    From OMIM, SCV000033349.4

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

    Description

    In patients with congenital insensitivity to pain (CIPA; 256800) from 16 Bedouin families from the southern Israeli-Negev, Shatzky et al. (2000) identified a 1-bp insertion (1926insT) in the NTRK1 gene. The mutation was used for prenatal diagnosis in 6 cases.

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

    Last Updated: Apr 17, 2020

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