WDPCP

WD repeat containing planar cell polarity effector
OMIM: 613580, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red WDPCP in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992

Green WDPCP in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Green WDPCP in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Green WDPCP in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Green WDPCP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Green WDPCP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085

Green WDPCP in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • Expert Review Green
  • RetNet
  • Expert Review Green

Green WDPCP in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Red WDPCP in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992