Bardet Biedl syndrome

Gene: WDPCP

Amber List (moderate evidence)

WDPCP (WD repeat containing planar cell polarity effector)
EnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 23 panels

5 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from green to amber. There are several unrelated cases of oral-facial-digital syndromes caused by variants in WDPCP; however, there is only 1 case of BBS (PMID: 28289185,25427950 and 27158779). Therefore, this gene has been demoted to amber.
Created: 16 Jul 2019, 3:37 p.m. | Last Modified: 16 Jul 2019, 3:37 p.m.
Panel Version: 0.21

Tom Cullup (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Eleanor Williams (Genomics England Curator)

Confirmed association with Bardet-Biedl Syndrome type 15 in Gene2Phenotype.
Created: 20 Jul 2018, 1:42 p.m.

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
217085

Publications

Caroline Wright (Genomics England Curator)

Comment on list classification: Single patient in OMIM
Created: 17 Dec 2015, 3:01 p.m.

History Filter Activity

16 Jul 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: WDPCP were set to 20671153

16 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: wdpcp has been classified as Amber List (Moderate Evidence).

15 Mar 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to WDPCP. Added phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP Publications for gene WDPCP were changed from to 20671153

15 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: WDPCP was added gene: WDPCP was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992