Joubert syndromeGene: C2CD3
On current diagnostic panel; no positive families to date. Some evidence for literature, reported in OFD.
Created: 15 Mar 2016, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Orofaciodigital syndrome XIV
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
C2CD3 was added to Joubert syndromepanel. Sources: Expert Review
C2CD3 was created by PennyC