GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: WISP3EnsemblGeneIds (GRCh38): ENSG00000112761
EnsemblGeneIds (GRCh37): ENSG00000112761
OMIM: 603400, Gene2Phenotype
WISP3 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for WISP3 is CCN6Created: 9 May 2019, 4:20 p.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Arthropathy, progressive pseudorheumatoid, of childhood 208230
- Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
- Tags
- OMIM
- 603400
- Clinvar variants
- Variants in WISP3
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: WISP3.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: WISP3 was added gene: WISP3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230