Polydactyly
Gene: WDPCP

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.
Created: 15 Oct 2020, 9:43 a.m. | Last Modified: 15 Oct 2020, 9:43 a.m.

Panel Version: 0.178

Two families reported; the first one with a BBS phenotype, and in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS.
Created: 15 Oct 2020, 9:22 a.m. | Last Modified: 15 Oct 2020, 9:22 a.m.

Panel Version: 0.175

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Publications

Created: 15 Oct 2020, 9:22 a.m.
Last Modified: 15 Oct 2020, 9:22 a.m.
Panel version: 0.178

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 4:23 a.m.
Last Modified: 21 Jul 2020, 4:23 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Bardet-Biedl syndrome 15, MIM# 615992
OFD
Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

OMIM

613580

Clinvar variants

Variants in WDPCP

Penetrance

None

Publications

Panels with this gene