Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | ETFDH |
Ivone Leong Source NHS GMS was added to ETFDH. Source London North GLH was added to ETFDH. |
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| Likely inborn error of metabolism v0.4 | ETFDH | Ellen McDonagh Added phenotypes GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; Disorders of ubiquinone metabolism and biosynthesis for gene: ETFDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | ETFDH |
Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 27604308; 24816252 Phenotypes for gene: ETFDH were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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