Renal ciliopathiesGene: ZNF423
Comment when marking as ready: Homozygous mutations only reported in two siblings with nephronophthisis and two Joubert patients found to have heterozygous mutations
Created: 23 Jan 2017, 12:15 p.m.
On current diagnostic panel; no positive families in patient cohort to date.
Created: 16 Mar 2016, 4:02 p.m.
Joubert syndrome; nephronphthisis
Variants in this GENE are reported as part of current diagnostic practice
gene: ZNF423 was added gene: ZNF423 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen,Orphanet Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ZNF423 were set to 22863007 Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844