Activity
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6 actions
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| DDG2P v6.235 | LIPT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIPT1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LIPT1 | Achchuthan Shanmugasundram edited their review of gene: LIPT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIPT1-related Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase are strong, biallelic_autosomal and undetermined (PMIDs: 24256811, 24341803, 27247813). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02224.; Changed publications to: 24256811, 27247813, 24341803; Changed phenotypes to: MONDO:0014576, LIPT1-related Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase, OMIM:616299.0, Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPT1 | Achchuthan Shanmugasundram reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27247813, 24341803, 24256811; Phenotypes: Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LIPT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT1. Mode of pathogenicity for gene LIPT1 was changed from Other - please provide details in the comments to Other Publications for gene: LIPT1 were updated from 24341803; 27247813; 24256811 to 27247813; 24341803; 24256811 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | LIPT1 | Rebecca Foulger reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LIPT1 |
Rebecca Foulger gene: LIPT1 was added gene: LIPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 24341803; 27247813; 24256811 Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Mode of pathogenicity for gene: LIPT1 was set to Other - please provide details in the comments |
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