Ataxia - paediatric
Gene: ARMC9
OMIM: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis
PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.
Sources: Expert listCreated: 4 May 2020, 4:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 30 617622 AR
Publications
Ataxia is not a prominent feature of the phenotype.Created: 27 Dec 2019, 4:11 a.m. | Last Modified: 27 Dec 2019, 4:11 a.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 30, MIM#617622
Gene: armc9 has been classified as Red List (Low Evidence).
Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM#617622
Gene: armc9 has been classified as Red List (Low Evidence).
gene: ARMC9 was added gene: ARMC9 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC9 were set to Joubert syndrome 30