WDR35

WD repeat domain 35
OMIM: 613602
PanelMode of inheritanceDetails
7 panels
R-numbers: R100
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) 613610, 613610
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA 2 613610, SHORT RIB-POLYDACTYLY SYNDROME, TYPE V 614091
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA 2, SHORT RIB-POLYDACTYLY SYNDROME, TYPE V
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
Cranioectodermal dysplasia 2, 613610, Cranioectodermal dysplasia, Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 2, 613610, Cranioectodermal dysplasia, Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 7 with or without polydactyly 614091, Cranioectodermal dysplasia 2 613610
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, 613610, Cranioectodermal dysplasia, Short-rib thoracic dysplasia 7 with or without polydactyly, 614091