Joubert syndromeGene: B9D1
On current diagnostic panel; no positives to date. Some evidence from literature; mainly associated with Meckel-Gruber syndrome.
Created: 15 Mar 2016, 11:17 a.m.
Meckel-Gruber syndrome; Joubert syndrome
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
B9D1 was created by PennyC
B9D1 was added to Joubert syndromepanel. Sources: Expert Review