NM_003880.3(WISP3):c.993G>A (p.Trp331Ter) AND Progressive pseudorheumatoid dysplasia

Clinical significance:Pathogenic (Last evaluated: Nov 6, 2007)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006752.1

Allele description [Variation Report for NM_003880.3(WISP3):c.993G>A (p.Trp331Ter)]

NM_003880.3(WISP3):c.993G>A (p.Trp331Ter)

Gene:
WISP3:WNT1 inducible signaling pathway protein 3 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_003880.3(WISP3):c.993G>A (p.Trp331Ter)
HGVS:
  • NC_000006.12:g.112069548G>A
  • NG_011748.1:g.20474G>A
  • NM_003880.3:c.993G>A
  • NP_003871.1:p.Trp331Ter
  • NC_000006.11:g.112390751G>A
Protein change:
W331*; TRP331TER
Links:
OMIM: 603400.0002; dbSNP: 121908900
NCBI 1000 Genomes Browser:
rs121908900
Molecular consequence:
  • NR_125353.1:n.1247G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_003880.3:c.993G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Progressive pseudorheumatoid dysplasia (PPAC)
Synonyms:
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; Spondyloepiphyseal dysplasia tarda progressive arthropathy; Progressive pseudorheumatoid arthropathy of childhood; See all synonyms [MedGen]
Identifiers:
MedGen: C0432215; Orphanet: 1159; OMIM: 208230
Age of onset:
Childhood
Prevalence:
1-9 / 1 000 000 1159

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026944OMIMPathogenic
(Nov 6, 2007)
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

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML.

Nat Genet. 1999 Sep;23(1):94-8.

PubMed [citation]
PMID:
10471507

Details of each submission

From OMIM, SCV000026944.1

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

Description

See 603400.0001 and Hurvitz et al. (1999).

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

Last Updated: Mar 23, 2015