Joubert syndromeGene: TMEM216
On current diagnostic panel; positive families in patient cohort. Evidence from the literature.
Common Ashkenazi Jewish variant.
16 Mar 2016, 3:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome: Meckel-Gruber syndrome
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
TMEM216 was created by PennyC
TMEM216 was added to Joubert syndromepanel. Sources: Expert Review