Activity
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6 actions
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| DDG2P v6.398 | TUBG1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBG1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TUBG1 | Achchuthan Shanmugasundram edited their review of gene: TUBG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBG1-related posteriorly predominant pachygyria and severe microcephaly are strong, monoallelic_autosomal and undetermined (PMID:23603762). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02358.; Changed phenotypes to: Posteriorly predominant pachygyria and severe microcephaly, TUBG1-related posteriorly predominant pachygyria and severe microcephaly, OMIM:615412.0, MONDO:0014171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBG1 | Achchuthan Shanmugasundram reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: Posteriorly predominant pachygyria and severe microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUBG1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUBG1. Mode of pathogenicity for gene TUBG1 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 | TUBG1 | Rebecca Foulger reviewed gene: TUBG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TUBG1 |
Rebecca Foulger gene: TUBG1 was added gene: TUBG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBG1 were set to 23603762 Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly Mode of pathogenicity for gene: TUBG1 was set to Other - please provide details in the comments |
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