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| Likely inborn error of metabolism - targeted testing not possible v1.47 | OPA3 |
Ivone Leong Source NHS GMS was added to OPA3. Source London North GLH was added to OPA3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA3 |
Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300; Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) for gene: OPA3 Publications for gene OPA3 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA3 |
Ellen McDonagh gene: OPA3 was added gene: OPA3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 |
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