Joubert syndromeGene: KIF7
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.
Created: 15 Mar 2016, 2:43 p.m.
Joubert syndrome; Acrocallosal syndrome; Hydrolethalus syndrome
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
KIF7 was created by PennyC
KIF7 was added to Joubert syndromepanel. Sources: Expert Review