DYNC2I1

dynein 2 intermediate chain 1
OMIM: 615462, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green DYNC2I1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 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 DYNC2I1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa
Green DYNC2I1 in Mendeliome Version 2.55	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa
Green DYNC2I1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa
Green DYNC2I1 in Skeletal Ciliopathies Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa
Green DYNC2I1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Green DYNC2I1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Green DYNC2I1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3) Tags new gene name
Amber DYNC2I1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SRTD8 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
Green DYNC2I1 in Fetal anomalies Version 2.2	1 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 8 with or without polydactyly, MIM# 615503
Green DYNC2I1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)