Activity
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6 actions
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| DDG2P v6.397 | TUBB2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBB2A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TUBB2A | Achchuthan Shanmugasundram edited their review of gene: TUBB2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB2A-related cortical dysplasia, complex, with other brain malformations are definitive, monoallelic_autosomal and undetermined (PMID:24702957). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00402.; Changed phenotypes to: OMIM:615763.0, TUBB2A-related cortical dysplasia, complex, with other brain malformations, MONDO:0014337, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBB2A | Achchuthan Shanmugasundram reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUBB2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB2A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBB2A | Rebecca Foulger reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TUBB2A |
Rebecca Foulger gene: TUBB2A was added gene: TUBB2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2A were set to 24702957 Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763 Mode of pathogenicity for gene: TUBB2A was set to Other - please provide details in the comments |
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