Activity
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7 actions
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| DDG2P v6.395 | TSEN34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN34 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TSEN34 | Achchuthan Shanmugasundram edited their review of gene: TSEN34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN34-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMID:18711368). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00487.; Changed publications to: 18711368; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970, MONDO:0012891, TSEN34-related pontocerebellar hypoplasia, OMIM:612390.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.14 | TSEN34 | Ida Ertmanska commented on gene: TSEN34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN34 | Achchuthan Shanmugasundram reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TSEN34 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN34. Mode of pathogenicity for gene TSEN34 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 | TSEN34 | Rebecca Foulger reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TSEN34 |
Rebecca Foulger gene: TSEN34 was added gene: TSEN34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN34 was set to Other - please provide details in the comments |
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