Joubert syndromeGene: KIAA0586
On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 11:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Short-rib dysplasia 14 with polydactyly
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
KIAA0586 was created by PennyC
KIAA0586 was added to Joubert syndromepanel. Sources: Expert Review