CEP104

centrosomal protein 104
OMIM: 616690, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CEP104 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770
Green CEP104 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770
Green CEP104 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Neurodevelopmental disorder MONDO:0014770, CEP104-related
Red CEP104 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 Red KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770
Green CEP104 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Neurodevelopmental disorder MONDO:0014770, CEP104-related
Green CEP104 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770