Joubert syndromeGene: TMEM237
On current diagnostic panel; no positive families in patient cohort to date. Evidence from the literature. Common Canadian Hutterite variant.
16 Mar 2016, 3:39 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
TMEM237 was created by PennyC
TMEM237 was added to Joubert syndromepanel. Sources: Expert Review