ZNF423

zinc finger protein 423
OMIM: 604557, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber ZNF423 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Joubert syndrome 19, OMIM# 614844 Nephronophthisis 14, OMIM:614844
Amber ZNF423 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Joubert syndrome 19 (MIM#614844)
Amber ZNF423 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 19, OMIM# 614844
Amber ZNF423 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 Amber Expert Review KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 19, OMIM# 614844
Red ZNF423 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Joubert syndrome 19, OMIM# 614844
Red ZNF423 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Joubert syndrome 19, OMIM# 614844
Red ZNF423 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Amber Royal Melbourne Hospital Emory Genetics Laboratory Victorian Clinical Genetics Services
Red ZNF423 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Nephronophthisis 14
Red ZNF423 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Royal Melbourne Hospital Phenotypes Joubert syndrome 19 (MIM#614844)
Amber ZNF423 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert Review Expert list KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 19 614844 Nephronophthisis 14 614844