Joubert syndromeGene: B9D2
On current diagnostic panel; no positives to date. Some evidence from literature; mainly associated with Meckel-Gruber syndrome.
15 Mar 2016, 1:34 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
B9D2 was created by PennyC
B9D2 was added to Joubert syndromepanel. Sources: Expert Review