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 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 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 1.94	1 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 0.132	1 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 1.3512	1 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 1.45 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 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 1.410	1 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 0.182 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	1 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	1 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 1.465	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Nephronophthisis 18, MIM# 615862 ID MONDO:0014374 Retinal dystrophy