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 Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green DYNC2H1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127
Amber DYNC2H1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Green DYNC2H1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127
Green DYNC2H1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127
Green DYNC2H1 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127
Green DYNC2H1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127MONDO:0013127
Red DYNC2H1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091
Green DYNC2H1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087 Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff)
Green DYNC2H1 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.147 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes non-syndromic retinitis pigmentosa
Green DYNC2H1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Green DYNC2H1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY SRTD3
Green DYNC2H1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127
Green DYNC2H1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Green DYNC2H1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)