Joubert syndromeGene: INPP5E
In current diagnostic panel; one positive family in our disease cohort. Evidence in the literature.
Created: 15 Mar 2016, 2:33 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
INPP5E was created by PennyC
INPP5E was added to Joubert syndromepanel. Sources: Expert Review