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| Ataxia v2.20 | ACOX1 | Sangavi Sivagnanasundram Classified gene: ACOX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.20 | ACOX1 | Sangavi Sivagnanasundram Gene: acox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.19 | ACOX1 |
Sangavi Sivagnanasundram gene: ACOX1 was added gene: ACOX1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACOX1 were set to 38923841; 37846133 Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MONDO:0030073 Review for gene: ACOX1 was set to AMBER Added comment: Three unrelated individuals presenting with Mitchell syndrome, characterised by progressive gait ataxia, sensorineural hearing loss, visual impairment, ichthyosis and polyneuropathy. They all carry the same heterozygous missense variant c.710A>G, p.Asn237Ser, which is absent in gnomAD v4.1. Sources: Literature |
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