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Skeletal dysplasia
Gene: WISP3

WISP3 (WNT1 inducible signaling pathway protein 3)
EnsemblGeneIds (GRCh38): ENSG00000112761
EnsemblGeneIds (GRCh37): ENSG00000112761
OMIM: 603400, Gene2Phenotype
WISP3 is in 2 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael Oldridge
Created: 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for WISP3 is CCN6
Created: 30 Oct 2018, 11:44 a.m.

Created: 30 Oct 2018, 11:44 a.m.

Panel version: 1.127

Sarah Leigh (Genomics England Curator)

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.

Created: 21 Jun 2016, 1:15 p.m.

Panel version: 0.96

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Arthropathy, progressive pseudorheumatoid, of childhood 208230
Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230

Tags

new-gene-name

OMIM

603400

Clinvar variants

Variants in WISP3

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 for gene: WISP3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to WISP3. Rating Changed from Green List (high evidence) to Green List (high evidence)

30 Oct 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: WISP3.

9 Aug 2016, Gel status: 4