Genomics England

WDPCP

WD repeat containing planar cell polarity effector

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BARDET-BIEDL SYNDROME TYPE 15 209900
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BARDET-BIEDL SYNDROME TYPE 15
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BARDET-BIEDL SYNDROME TYPE 15 (BBS15)
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085, ?Bardet-Biedl syndrome 15, 615992
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Bardet-Biedl syndrome 15, 615992, Meckel syndrome, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Bardet-Biedl syndrome 15, 615992, Meckel syndrome, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 15, OMIM:615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085, ?Bardet-Biedl syndrome 15, 615992