PCARE, TRP253TER AND Retinitis pigmentosa 54

Clinical significance:Pathogenic (Last evaluated: May 14, 2010)

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:
RCV000000121.3

Allele description [Variation Report for PCARE, TRP253TER]

PCARE, TRP253TER

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p24.1-p23.1
Preferred name:
PCARE, TRP253TER
Other names:
W253*
HGVS:
    Protein change:
    TRP253TER
    Links:
    OMIM: 613425.0001

    Condition(s)

    Name:
    Retinitis pigmentosa 54 (RP54)
    Identifiers:
    MONDO: MONDO:0013263; MedGen: C3150691; Orphanet: 791; OMIM: 613428

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000020264OMIMno assertion criteria providedPathogenic
    (May 14, 2010)
    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

    Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

    Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC.

    Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15.

    PubMed [citation]
    PMID:
    20398886
    PMCID:
    PMC2868997

    Details of each submission

    From OMIM, SCV000020264.2

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

    Description

    In 8 affected individuals over 3 generations of a consanguineous family segregating autosomal recessive retinitis pigmentosa (RP54; 613428), Nishimura et al. (2010) identified homozygosity for a G-to-A transition in exon 1 of the C2ORF71 gene, resulting in a trp253-to-ter (W253X) substitution. The mutation was not detected in 100 ethnically matched patients.

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

    Last Updated: Oct 7, 2021

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