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Severe Paediatric Disorders v0.17 | AIFM1 | Louise Daugherty Mode of inheritance for gene AIFM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | AIFM1 | Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | AIFM1 | Louise Daugherty Publications for gene AIFM1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | AIFM1 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614 for gene: AIFM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | AIFM1 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614 for gene: AIFM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | AIFM1 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614 for gene: AIFM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | AIFM1 | Louise Daugherty Added phenotypes Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816; Deafness, X-linked 5, 300614 for gene: AIFM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | AIFM1 | Louise Daugherty Source Next Generation Children Project was added to AIFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | AIFM1 |
Louise Daugherty Source Expert Review Green was added to AIFM1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | AIFM1 |
Louise Daugherty gene: AIFM1 was added gene: AIFM1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: AIFM1 was set to |