Joubert syndromeGene: CEP41
On current diagnostic panel; no positive families to date. Evidence from literature.
15 Mar 2016, 2:07 p.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
CEP41 was created by PennyC
CEP41 was added to Joubert syndromepanel. Sources: Expert Review