Activity
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7 actions
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| DDG2P v6.26 | ACTC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACTC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ACTC1 | Achchuthan Shanmugasundram edited their review of gene: ACTC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACTC1-related distal arthrogryposis with congenital heart disease are moderate, monoallelic_autosomal and loss of function (PMIDs: 37457373, 38278647). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03543.; Changed publications to: 37457373, 38278647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ACTC1 | Achchuthan Shanmugasundram reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38278647, 37457373; Phenotypes: ACTC1-related distal arthrogryposis with congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | ACTC1 |
Achchuthan Shanmugasundram gene: ACTC1 was added gene: ACTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTC1 were set to 38278647; 37457373 Phenotypes for gene: ACTC1 were set to ACTC1-related distal arthrogryposis with congenital heart disease Mode of pathogenicity for gene: ACTC1 was set to Other |
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| DDG2P v3.12 | CTC1 | Achchuthan Shanmugasundram reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22267198, 22387016; Phenotypes: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, OMIM:612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTC1 | Rebecca Foulger reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CTC1 |
Rebecca Foulger gene: CTC1 was added gene: CTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198; 22387016 Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199 |
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