WDPCP

WD repeat containing planar cell polarity effector
OMIM: 613580
PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 15 209900
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 15
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 15 (BBS15)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085, ?Bardet-Biedl syndrome 15, 615992
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 15, 615992, Meckel syndrome, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 15, 615992, Meckel syndrome, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 15, OMIM:615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085, ?Bardet-Biedl syndrome 15, 615992
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, ?Bardet-Biedl syndrome 15 615992