Joubert syndromeGene: CSPP1
On current diagnostic panel; no positive families to date. Evidence from the literature.
15 Mar 2016, 2:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Meckel-Gruber syndrome
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
CSPP1 was created by PennyC
CSPP1 was added to Joubert syndromepanel. Sources: Expert Review