ZNF423:Ensemblv115

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber ZNF423 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber 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 2.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Joubert syndrome 19 (MIM#614844)
Amber ZNF423 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources KidGen_CilioNephronop v38.1.0 Expert Review Expert Review Amber Phenotypes Joubert syndrome 19, OMIM# 614844

3 panels