Bardet-Biedl Syndrome
Gene: WDPCPEnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 21 panels
2 reviews
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 Red
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Bardet-Biedl Syndrome
- 217085
- OMIM
- 613580
- Clinvar variants
- Variants in WDPCP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- Fetal anomalies
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Severe early-onset obesity
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for WDPCP were set to Bardet-Biedl Syndrome; 217085
Set publications
Ellen McDonagh (Genomics England Curator)Publications for WDPCP were set to PMID: 20671153; 26518167
Set publications
Caroline Wright (Genomics England Curator)Publications for WDPCP were set to 20671153; 26518167
Set publications
Caroline Wright (Genomics England Curator)Publications for WDPCP were set to ;26518167
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()WDPCP was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()WDPCP was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services