Activity
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6 actions
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| DDG2P v6.393 | TSEN15 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN15 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TSEN15 | Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN15-related pontocerebellar hypoplasia and progressive microcephaly are strong, biallelic_autosomal and undetermined (PMID:27392077). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01755.; Changed phenotypes to: Pontocerebellar Hypoplasia and Progressive Microcephaly, MONDO:0014874, OMIM:617026.0, TSEN15-related pontocerebellar hypoplasia and progressive microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN15 | Achchuthan Shanmugasundram reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27392077; Phenotypes: Pontocerebellar Hypoplasia and Progressive Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TSEN15 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN15. Mode of pathogenicity for gene TSEN15 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 | TSEN15 | Rebecca Foulger reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TSEN15 |
Rebecca Foulger gene: TSEN15 was added gene: TSEN15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly Mode of pathogenicity for gene: TSEN15 was set to Other - please provide details in the comments |
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