Bardet Biedl syndrome
Gene: WDPCPComment 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 15 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Publications
Confirmed association with Bardet-Biedl Syndrome type 15 in Gene2Phenotype.Created: 20 Jul 2018, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
217085
Publications
Comment on list classification: Single patient in OMIMCreated: 17 Dec 2015, 3:01 p.m.
Publications for gene: WDPCP were set to 20671153
Gene: wdpcp has been classified as Amber List (Moderate Evidence).
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
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