Joubert syndromeGene: C5orf42
Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1
21 Mar 2018, 12:30 p.m.
On current diagnostic panel; positive families within our patient cohort. Evidence from the literature.
15 Mar 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Oral-facial-digital syndrome type VI
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
C5orf42 was added to Joubert syndromepanel. Sources: Expert Review
C5orf42 was created by PennyC