Activity
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14 actions
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| DDG2P v6.342 | SLC25A19 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A19 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC25A13 | Achchuthan Shanmugasundram reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: ; Publications: 37063661, 29152073, 40992288, 36599957; Phenotypes: MONDO:0011601, OMIM:605814.0, SLC25A13-related citrullinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC25A19 | Achchuthan Shanmugasundram edited their review of gene: SLC25A19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A19-related Amish lethal microcephaly are strong, biallelic_autosomal and undetermined (PMID:12185364). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00311.; Changed phenotypes to: AMISH LETHAL MICROCEPHALY, OMIM:607196, OMIM:607196.0, SLC25A19-related Amish lethal microcephaly, MONDO:0011790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | SLC25A13 |
Achchuthan Shanmugasundram gene: SLC25A13 was added gene: SLC25A13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 29152073; 37063661; 40992288; 36599957 Phenotypes for gene: SLC25A13 were set to SLC25A13-related citrullinemia; OMIM:605814.0; MONDO:0011601 |
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| DDG2P v3.12 | SLC25A19 | Achchuthan Shanmugasundram reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12185364; Phenotypes: AMISH LETHAL MICROCEPHALY, OMIM:607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A15 | Achchuthan Shanmugasundram reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: ; Publications: 11355015, 10369256, 19242930, 16940241, 11552031; Phenotypes: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME, OMIM:238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A1 | Achchuthan Shanmugasundram reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29226520, 27306203, 23561848; Phenotypes: SLC25A1-related Neurometabolic Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A19 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19. Mode of pathogenicity for gene SLC25A19 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC25A15 | Achchuthan Shanmugasundram Publications for gene: SLC25A15 were updated from 10369256; 16940241; 11355015; 19242930; 11552031 to 11355015; 19242930; 10369256; 16940241; 11552031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A1 |
Achchuthan Shanmugasundram gene: SLC25A1 was added gene: SLC25A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 29226520; 27306203; 23561848 Phenotypes for gene: SLC25A1 were set to SLC25A1-related Neurometabolic Disorder |
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| DDG2P v0.2 | SLC25A19 | Rebecca Foulger reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A15 | Rebecca Foulger reviewed gene: SLC25A15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC25A19 |
Rebecca Foulger gene: SLC25A19 was added gene: SLC25A19 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 12185364 Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY 216535 Mode of pathogenicity for gene: SLC25A19 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A15 |
Rebecca Foulger gene: SLC25A15 was added gene: SLC25A15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 10369256; 16940241; 11355015; 19242930; 11552031 Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970 |
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