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| DDG2P v6.65 | ATP5A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP5A1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ATP5A1 | Achchuthan Shanmugasundram edited their review of gene: ATP5A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia are strong, monoallelic_autosomal and undetermined (PMID:34483339). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03218. The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1A-related mitochondrial encephalopathy are strong, biallelic_autosomal and undetermined (PMIDs: 23596069, 23599390). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03219.; Changed publications to: 34483339, 23596069, 23599390; Changed phenotypes to: ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia, ATP5F1A-related mitochondrial encephalopathy, OMIM:615228.0, OMIM:620358.0, MONDO:0014091, ATP5F1A-related mitochondrial encephalopathy, OMIM:615228, MONDO:0957254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | ATP5A1 | Achchuthan Shanmugasundram commented on gene: ATP5A1: Added new-gene-name tag, new approved HGNC gene symbol for ATP5A1 is ATP5F1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.13 | ATP5A1 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: ATP5A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP5A1 | Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34483339, 23599390, 23596069; Phenotypes: ATP5F1A-related mitochondrial encephalopathy, OMIM:615228, ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP5A1 |
Achchuthan Shanmugasundram gene: ATP5A1 was added gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069 Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia Mode of pathogenicity for gene: ATP5A1 was set to Other |
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