WDR60

WD repeat domain 60
OMIM: 615462
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JEUNE SYNDROMES, SHORT-RIB POLYDACTYLY
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JEUNE SYNDROMES, SHORT-RIB POLYDACTYLY
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly 615503, Polydactyly
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
Short-rib thoracic dysplasia 8 with or without polydactyly, 615503, Short-rib thoracic dysplasia 8 with or without polydactyly, Jeune syndrome, SHORT-RIB POLYDACTYLY
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly, 615503, Short-rib thoracic dysplasia 8 with or without polydactyly, Jeune syndrome, SHORT-RIB POLYDACTYLY
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly 615503