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| Joubert syndrome and other neurological ciliopathies v0.46 | ARMC9 | Zornitza Stark Marked gene: ARMC9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.46 | ARMC9 | Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.46 | ARMC9 | Zornitza Stark Classified gene: ARMC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.46 | ARMC9 | Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.45 | ARMC9 |
Zornitza Stark gene: ARMC9 was added gene: ARMC9 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, MIM# 617622 Review for gene: ARMC9 was set to GREEN Added comment: 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 list |
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