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| Likely inborn error of metabolism - targeted testing not possible v2.250 | FH | Arina Puzriakova Phenotypes for gene: FH were changed from Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) to Fumarase deficiency, OMIM:606812; Disorders of the citric acid cycle | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | FH |
Ivone Leong Source NHS GMS was added to FH. Source London North GLH was added to FH. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | FH |
Ellen McDonagh Added phenotypes Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) for gene: FH Publications for gene FH were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | FH |
Ellen McDonagh gene: FH was added gene: FH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumarase deficiency, 606812 |
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