Joubert syndromeGene: TMEM231
On current diagnostic panel; no positive families in patient cohort to date. Evidence from literature.
16 Mar 2016, 3:30 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
TMEM231 was added to Joubert syndromepanel. Sources: Expert Review
TMEM231 was created by PennyC