Joubert syndromeGene: OFD1
On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 9:07 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
X-linked Joubert syndrome; Oral-facial-digital syndrome I
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
OFD1 was created by PennyC
OFD1 was added to Joubert syndromepanel. Sources: Expert Review