Bardet Biedl syndrome
Gene: WDPCPEnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 21 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 15 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Publications
- Kim et al 2010 PMID: 20671153
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
217085
Publications
Caroline Wright (Genomics England Curator)
Comment on list classification: Single patient in OMIMCreated: 17 Dec 2015, 3:01 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Other
- Phenotypes
-
- ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
- ?Bardet-Biedl syndrome 15, 615992
- OMIM
- 613580
- Clinvar variants
- Variants in WDPCP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Severe early-onset obesity
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: WDPCP were set to 20671153
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: wdpcp has been classified as Amber List (Moderate Evidence).
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
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