Skeletal dysplasia
Gene: WDPCP
WDPCP (WD repeat containing planar cell polarity effector)
EnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 21 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.Created: 12 Dec 2019, 8:49 p.m. | Last Modified: 12 Dec 2019, 8:49 p.m.
Panel Version: 1.340
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
- ?Bardet-Biedl syndrome 15, 615992
- OMIM
- 613580
- Clinvar variants
- Variants in WDPCP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Non-syndromic familial congenital anorectal malformations
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Severe early-onset obesity
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
12 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: wdpcp has been classified as Green List (High Evidence).
12 Dec 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: WDPCP were changed from to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; ?Bardet-Biedl syndrome 15, 615992
12 Dec 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: WDPCP were set to
12 Dec 2019, Gel status: 1
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
9 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)WDPCP was created by sleigh
18 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)WDPCP was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory