Activity
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6 actions
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| DDG2P v6.188 | GTF2E2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GTF2E2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GTF2E2 | Achchuthan Shanmugasundram edited their review of gene: GTF2E2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GTF2E2-related DNA repair-proficient trichothiodystrophy are strong, biallelic_autosomal and undetermined (PMID:26996949). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01727.; Changed phenotypes to: GTF2E2-related DNA repair-proficient trichothiodystrophy, OMIM:616943.0, MONDO:0014841, DNA Repair-Proficient Trichothiodystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTF2E2 | Achchuthan Shanmugasundram reviewed gene: GTF2E2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26996949; Phenotypes: DNA Repair-Proficient Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GTF2E2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GTF2E2. Mode of pathogenicity for gene GTF2E2 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 | GTF2E2 | Rebecca Foulger reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GTF2E2 |
Rebecca Foulger gene: GTF2E2 was added gene: GTF2E2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949 Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy Mode of pathogenicity for gene: GTF2E2 was set to Other - please provide details in the comments |
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