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
-
- Intellectual disability
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- DDG2P
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Fetal anomalies
- Retinal disorders
- Glaucoma (developmental)
- Bardet Biedl syndrome
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Skeletal ciliopathies
- Structural eye disease
- Limb disorders
- Ophthalmological ciliopathies
- Non-syndromic familial congenital anorectal malformations
- Childhood onset dystonia, chorea or related movement disorder
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