Genomics England

WDR19

WD repeat domain 19

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease - Unexplained young onset end-stage renal disease Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease, Nephronophthisis 13, Senior-Loken
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CRANIOECTODERMAL DYSPLASIA 4 614378, ASPHYXIATING THORACIC DYSTROPHY 5 614376
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ASPHYXIATING THORACIC DYSTROPHY 5, CRANIOECTODERMAL DYSPLASIA 4
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 Nephronophthisis 13, 614377, ?Short-rib thoracic dysplasia 5 with or without polydactyly, Senior-Loken syndrome 8, 616307, Cranioectodermal dysplasia, ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376, Jeune syndrome, Senior-Loken syndrome, ?Cranioectodermal dysplasia 4, 614378, Nephronophthisis
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 Nephronophthisis 13, 614377, ?Short-rib thoracic dysplasia 5 with or without polydactyly, Senior-Loken syndrome 8, 616307, Cranioectodermal dysplasia, ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376, Jeune syndrome, Senior-Loken syndrome, ?Cranioectodermal dysplasia 4, 614378, Nephronophthisis
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Genetic Retinal Degeneration Conditions
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 13, 614377, ?Short-rib thoracic dysplasia 5 with or without polydactyly, Senior-Loken syndrome 8, 616307, Cranioectodermal dysplasia, ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376, Jeune syndrome, Senior-Loken syndrome, ?Cranioectodermal dysplasia 4, 614378, Nephronophthisis
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cranioectodermal dysplasia 4, 614378, Short-rib thoracic dysplasia 5 with or without polydactyly, 614376, Asphyxiating thoracic dystrophy 5, 614376, SRTD5
Green in Tubulointerstitial kidney disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R202 Signed-off version 3.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronopthisis 13 MIM 614377, ?Cranioectodermal dysplasia 4, MIM 614378, ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376, Senior-Loken syndrome 8, MIM 616307