Retinal disorders
Gene: WDPCPComment on publications: New publications addedCreated: 17 Feb 2021, 3:34 p.m. | Last Modified: 17 Feb 2021, 3:34 p.m.
Panel Version: 2.166
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
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.
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
Publications for gene: WDPCP were set to
Source NHS GMS was added to WDPCP. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for WDPCP was changed to BIALLELIC, autosomal or pseudoautosomal
WDPCP was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
WDPCP was created by ellenmcdonagh