Genomics England

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091, SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SHORT RIB-POLYDACTYLY SYNDROME TYPE 3, ASPHYXIATING THORACIC DYSTROPHY TYPE 3
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes retinitis pigmentosa, MONDO:0019200
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091