Joubert syndromeGene: ARMC9
After clinical discussion and literature search we found 8 families, 11 patients and a spectrum of mutations linking variations in this gene and Joubert syndrome.
Created: 24 Jul 2017, 2:34 p.m.
Mode of inheritance
Mode of inheritance for ARMC9 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ARMC9 were set to 28625504
ARMC9 was created by oniblock
ARMC9 was added to Joubert syndromepanel. Sources: Literature