Joubert syndromeGene: RPGRIP1L
On current diagnostic panel; positive families within patient cohort. Evidence in literature.
Created: 16 Mar 2016, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; COACH 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
RPGRIP1L was created by PennyC
RPGRIP1L was added to Joubert syndromepanel. Sources: Expert Review