DYNC2I2

dynein 2 intermediate chain 2
OMIM: 613363, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green DYNC2I2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	2 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green DYNC2I2 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 11 with or without polydactyly, MIM# 615633 Retinitis pigmentosa
Green DYNC2I2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633 Retinitis pigmentosa
Green DYNC2I2 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Green DYNC2I2 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 11 with or without polydactyly, MIM# 615633
Red DYNC2I2 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Red DYNC2I2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly OMIM #615633
Green DYNC2I2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	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 11 with or without polydactyly, 615633
Red DYNC2I2 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Retinitis pigmentosa
Green DYNC2I2 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 11 with or without polydactyly, 615633 (3) Tags new gene name
Amber DYNC2I2 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 SRTD11 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
Green DYNC2I2 in Fetal anomalies Version 2.0	2 reviews	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 11 with or without polydactyly, MIM# 615633
Green DYNC2I2 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 11 with or without polydactyly MIM# 615633, MONDO:0014287
Green DYNC2I2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287