Joubert syndromeGene: TTC21B
On current diagnostic panel; no positive families in patient cohort to date. Evidence in the literature.
16 Mar 2016, 3:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Nephronophthisis; Short-rib thoracic dysplasia 4 with or without polydactyly
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
TTC21B was created by PennyC
TTC21B was added to Joubert syndromepanel. Sources: Expert Review