Joubert syndromeGene: TCTN3
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.
16 Mar 2016, 12:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Orofaciodigital syndrome IV
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
TCTN3 was created by PennyC
TCTN3 was added to Joubert syndromepanel. Sources: Expert Review