Activity
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10 actions
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| DDG2P v6.17 | MYH10 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: MYH10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MYH10 | Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH10-related multiple congenital anomalies are moderate, monoallelic_autosomal and dominant negative (PMIDs: 25003005, 25356899, 35980381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01930.; Changed mode of pathogenicity: Other; Changed publications to: 35980381, 25356899, 25003005; Changed phenotypes to: MYH10-related Multiple congenital anomalies, MYH10-related multiple congenital anomalies, MONDO:0700281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | MYH10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MYH10 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | MYH10 | Arina Puzriakova Tag gene-checked tag was added to gene: MYH10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | MYH10 | Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category for the disease MYH10-related Multiple congenital anomalies is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 35980381;25356899;25003005).; Changed rating: GREEN; Changed publications to: 25356899, 35980381, 25003005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | MYH10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYH10. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | MYH10 | Achchuthan Shanmugasundram reviewed gene: MYH10: Rating: RED; Mode of pathogenicity: ; Publications: 25003005, 25356899; Phenotypes: MYH10-related Multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYH10 | Achchuthan Shanmugasundram Publications for gene: MYH10 were updated from 25356899; 25003005 to 25003005; 25356899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYH10 | Rebecca Foulger reviewed gene: MYH10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH10 |
Rebecca Foulger gene: MYH10 was added gene: MYH10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH10 were set to 25356899; 25003005 Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies |
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