DYNC2H1

dynein cytoplasmic 2 heavy chain 1
OMIM: 603297
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SRTD3
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091, SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT RIB-POLYDACTYLY SYNDROME TYPE 3, ASPHYXIATING THORACIC DYSTROPHY TYPE 3
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
Short-rib thoracic dysplasia 3 with or without polydactyly, Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Jeune syndrome, Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 3 with or without polydactyly, Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Jeune syndrome, Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091, Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff), Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Short-rib thoracic dysplasia 3 with or without polydactyly, 613091, Short-rib thoracic dysplasia 3 with or without polydactyly, Jeune syndrome