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| DDG2P v3.12 | AIFM1 | Achchuthan Shanmugasundram reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23217327, 20362274; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, OMIM:300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AIFM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AIFM1. Mode of pathogenicity for gene AIFM1 was changed from Other - please provide details in the comments to Other Publications for gene: AIFM1 were updated from 20362274 to 23217327; 20362274 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.137 | AIFM1 | Rebecca Foulger Phenotypes for gene: AIFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521; COWCHOCK SYNDROME to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816; COWCHOCK SYNDROME 310490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AIFM1 | Rebecca Foulger reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AIFM1 |
Rebecca Foulger Added phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521 for gene: AIFM1 Publications for gene AIFM1 were changed from 23217327 to 20362274 |
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| DDG2P v0.1 | AIFM1 |
Rebecca Foulger gene: AIFM1 was added gene: AIFM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype 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 23217327 Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME Mode of pathogenicity for gene: AIFM1 was set to Other - please provide details in the comments |
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