Genomics England

WDR60

WD repeat domain 60

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JEUNE SYNDROMES, SHORT-RIB POLYDACTYLY
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JEUNE SYNDROMES, SHORT-RIB POLYDACTYLY
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503, Polydactyly
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.3	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
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.14	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
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503, SHORT-RIB POLYDACTYLY, Short-rib thoracic dysplasia 8 with or without polydactyly, Jeune syndrome