Joubert syndromeGene: PDE6D
On current diagnostic panel; no positive families to date. evidence in literature.
Created: 16 Mar 2016, 9:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
PDE6D was added to Joubert syndromepanel. Sources: Expert Review
PDE6D was created by PennyC