Activity
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6 actions
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| Dystonia, chorea or related movement disorder, adult onset v0.50 | AIFM1 | Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.49 | AIFM1 | Emily Jones reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: ; Publications: 20362274; Phenotypes: Combined oxidative phosphorylation deficiency 6 300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.48 | AIFM1 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.47 | AIFM1 | Louise Daugherty Source NHS GMS was added to AIFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.46 | AIFM1 | Louise Daugherty Source South West GLH was added to AIFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.2 | AIFM1 |
Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 20362274 Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816 |
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