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  3. WISP3
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Fetal anomalies

Gene: WISP3

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Signs and symptoms, typically consisting of stiffness and swelling of joints, motor weakness, and joint contractures, usually develop between 3 and 8 years of age. Associated with platyspondyly and short stature but mainly a progressive condition.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive pseudorheumatoid dysplasia, MIM#208230

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Progressive pseudorheumatoid dysplasia, OMIM:208230
OMIM
603400
Clinvar variants
Variants in WISP3
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WISP3 was added gene: WISP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WISP3 were set to Progressive pseudorheumatoid dysplasia, OMIM:208230