WDR19

WD repeat domain 19
OMIM: 608151
PanelMode of inheritanceDetails
10 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA 4 614378, ASPHYXIATING THORACIC DYSTROPHY 5 614376
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ASPHYXIATING THORACIC DYSTROPHY 5, CRANIOECTODERMAL DYSPLASIA 4
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
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
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
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
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
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
R-numbers: R202
Signed-off version 1.3
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
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 13, Ciliopathy genes associated with cystic kidney disease, Senior-Loken