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 1.94	3 reviews	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 1.31	1 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 1.3512	3 reviews	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 1.45 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	2 reviews	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 0.594	1 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 1.410	1 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 0.346	2 reviews	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 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	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 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	3 reviews	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 1.465	3 reviews	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