Joubert syndromeGene: TMEM138
On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 1:46 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
TMEM138 was created by PennyC
TMEM138 was added to Joubert syndromepanel. Sources: Expert Review