Severe early-onset obesity
Gene: WDPCPEnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 21 panels
3 reviews
Ismaa Farooqi (University of Cambridge)
Ayesha Ahmed (GEL)
Comment on list classification: Not sufficient evidence at presentCreated: 9 Sep 2016, 11:46 a.m.
Comment on list classification: Expert opinion however in literature only 2 pt found - 1 homozygous , 2nd heterozygous but also cmpd heterozygous for mutation in BBS12 gene.Created: 9 Sep 2016, 4:59 a.m.
stephen o'rahilly (university of cambridge)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Congenital Obesity
- OMIM
- 613580
- Clinvar variants
- Variants in WDPCP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Non-syndromic familial congenital anorectal malformations
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)Source Expert list was added to WDPCP. Mode of inheritance for gene WDPCP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for WDPCP were set to 26518167
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)WDPCP was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory