CEP83

centrosomal protein 83
OMIM: 615847, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red CEP83 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.195 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Nephronophthisis 18, MIM# 615862
Green CEP83 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID
Green CEP83 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Hydrocephalus ID
Green CEP83 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID
Green CEP83 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.26 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 Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID
Green CEP83 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID
Green CEP83 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.156 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID
Green CEP83 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID
Green CEP83 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Hydrocephalus ID
Red CEP83 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Nephronophthisis 18, MIM# 615862 ID MONDO:0014374 Retinal dystrophy