Activity
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6 actions
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| DDG2P v6.231 | LARS2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LARS2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LARS2 | Achchuthan Shanmugasundram edited their review of gene: LARS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LARS2-related Perrault syndrome are strong, biallelic_autosomal and undetermined (PMID:23541342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00856.; Changed phenotypes to: LARS2-related Perrault syndrome, PERRAULT SYNDROME, MONDO:0014126, OMIM:615300.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARS2 | Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541342; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LARS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2. Mode of pathogenicity for gene LARS2 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 v0.2 | LARS2 | Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LARS2 |
Rebecca Foulger gene: LARS2 was added gene: LARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 23541342 Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME Mode of pathogenicity for gene: LARS2 was set to Other - please provide details in the comments |
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