Retinal disorders
Gene: WDPCP

WDPCP (WD repeat containing planar cell polarity effector)
EnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 21 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on publications: New publications added
Created: 17 Feb 2021, 3:34 p.m. | Last Modified: 17 Feb 2021, 3:34 p.m.

Panel Version: 2.166

Created: 17 Feb 2021, 3:34 p.m.
Last Modified: 17 Feb 2021, 3:34 p.m.
Panel version: 2.166

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four families reported, with different ciliopathy phenotypes including BBS, OFD and syndromic retinopathy.
Created: 15 Oct 2020, 9:25 a.m. | Last Modified: 15 Oct 2020, 9:48 a.m.

Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Publications

Created: 15 Oct 2020, 9:25 a.m.
Last Modified: 15 Oct 2020, 9:48 a.m.
Panel version: 2.20

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.

Comment on list classification: Confirmed DD gene in G2P.
Created: 23 Mar 2016, 2:17 p.m.

Created: 23 Mar 2016, 2:17 p.m.

Panel version: 0.132

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Bardet-Biedl syndrome 15, OMIM:615992
OFD
Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085

OMIM

613580

Clinvar variants

Variants in WDPCP

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

17 Feb 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: WDPCP were changed from Eye Disorders to Bardet-Biedl syndrome 15, OMIM:615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085

17 Feb 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: WDPCP were set to

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

23 Mar 2016, Gel status: 4