Skeletal dysplasia
Gene: WISP3
Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: WISP3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Added new-gene-name tag, new approved HGNC gene symbol for WISP3 is CCN6Created: 30 Oct 2018, 11:44 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:15 p.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 for gene: WISP3
Source NHS GMS was added to WISP3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Tag new-gene-name tag was added to gene: WISP3.
Promoted to version 1 9th August 2016
Phenotypes for WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230
Mode of inheritance for WISP3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
WISP3 was created by sleigh
WISP3 was added to Unexplained skeletal dysplasiapanel. Sources: