Activity
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6 actions
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| Likely inborn error of metabolism v8.84 | NDUFA4 | Achchuthan Shanmugasundram commented on gene: NDUFA4: The 'new-gene-name' tag has been added as the official HGNC gene symbol of NDUFA4 is COXFA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.84 | NDUFA4 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: NDUFA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.84 | NDUFA4 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619065) and the OMIM record was last accessed on 19 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.84 | NDUFA4 | Achchuthan Shanmugasundram Phenotypes for gene: NDUFA4 were changed from Isolated complex IV deficiency; No OMIM phenotype to ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065; mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.76 | NDUFA4 |
Sarah Leigh Source Expert Review Green was added to NDUFA4. Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4 Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v0.4 | NDUFA4 |
Ellen McDonagh gene: NDUFA4 was added gene: NDUFA4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA4 was set to Unknown Publications for gene: NDUFA4 were set to PMID: 23746447 Phenotypes for gene: NDUFA4 were set to Isolated complex IV deficiency; No OMIM phenotype |
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