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| Likely inborn error of metabolism - targeted testing not possible v2.51 | ACSF3 | Zornitza Stark reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ACSF3 |
Ivone Leong Source NHS GMS was added to ACSF3. Source London North GLH was added to ACSF3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ACSF3 |
Ellen McDonagh gene: ACSF3 was added gene: ACSF3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 27604308 Phenotypes for gene: ACSF3 were set to Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria |
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