Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | FOXRED1 |
Ivone Leong Source NHS GMS was added to FOXRED1. Source London North GLH was added to FOXRED1. |
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| Likely inborn error of metabolism v0.4 | FOXRED1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: FOXRED1 Publications for gene FOXRED1 were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | FOXRED1 |
Ellen McDonagh gene: FOXRED1 was added gene: FOXRED1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXRED1 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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