DYNC2H1

dynein cytoplasmic 2 heavy chain 1
OMIM: 603297, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green DYNC2H1 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
No list DYNC2H1 in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Other Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags curated_removed
No list DYNC2H1 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags curated_removed
Red DYNC2H1 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green DYNC2H1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green DYNC2H1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 ASPHYXIATING THORACIC DYSTROPHY TYPE 3
No list DYNC2H1 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green DYNC2H1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091 SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510
Green DYNC2H1 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Red DYNC2H1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green DYNC2H1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes retinitis pigmentosa, MONDO:0019200
Green DYNC2H1 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Orphanet UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green DYNC2H1 in Renal ciliopathies Level 2: Renal Version 4.7 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Green DYNC2H1 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.5 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Red DYNC2H1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH