Activity
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12 actions
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| DDG2P v6.334 | SDHAF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SDHAF1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.333 | SDHA | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SDHA was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SDHAF1 | Achchuthan Shanmugasundram edited their review of gene: SDHAF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SDHAF1-related mitochondrial complex II deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 19465911, 22995659). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01012.; Changed publications to: 22995659, 19465911; Changed phenotypes to: MONDO:0030935, OMIM:619166.0, MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011, SDHAF1-related mitochondrial complex II deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SDHA | Achchuthan Shanmugasundram edited their review of gene: SDHA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SDHA-related Leigh syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16361598, 24781757, 35014173). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01098.; Changed publications to: 16361598, 35014173, 24781757; Changed phenotypes to: MONDO:0100294, LEIGH SYNDROME, OMIM:256000, OMIM:252011.0, SDHA-related Leigh syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDHAF1 | Achchuthan Shanmugasundram reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDHA | Achchuthan Shanmugasundram reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SDHAF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHAF1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SDHA | Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHA was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SDHAF1 | Rebecca Foulger reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SDHA | Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SDHAF1 |
Rebecca Foulger gene: SDHAF1 was added gene: SDHAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY 252011 Mode of pathogenicity for gene: SDHAF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SDHA |
Rebecca Foulger gene: SDHA was added gene: SDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: SDHA was set to Other - please provide details in the comments |
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