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  2. Severe early-onset obesity
  3. WDPCP
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Severe early-onset obesity

Gene: WDPCP

Red List (low evidence)
WDPCP (WD repeat containing planar cell polarity effector)
EnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported; in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS.
Created: 11 Jan 2020, 2:44 a.m. | Last Modified: 11 Jan 2020, 2:44 a.m.
Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 15, MIM# 615992

Publications

Created: 11 Jan 2020, 2:44 a.m.
Last Modified: 11 Jan 2020, 2:44 a.m.
Panel version: Imported from Bardet Biedl syndrome panel version 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
OMIM
613580
Clinvar variants
Variants in WDPCP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdpcp has been classified as Red List (Low Evidence).

4 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDPCP were changed from Congenital Obesity to Bardet-Biedl syndrome 15, MIM# 615992

4 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WDPCP were set to 26518167

4 Nov 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WDPCP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

31 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDPCP was added gene: WDPCP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: WDPCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDPCP were set to 26518167 Phenotypes for gene: WDPCP were set to Congenital Obesity