Joubert syndromeGene: ZNF423
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
This proposed gene was validated and added to this panel
ZNF423 was added to Joubert syndromepanel. Sources: Expert Review
ZNF423 was created by PennyC