Activity
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| DDG2P v6.202 | HSF4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HSF4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HSF4 | Achchuthan Shanmugasundram edited their review of gene: HSF4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HSF4-related cataract (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 12089525, 16876512, 19014451, 24045990, 24637349, 26490182, 29243736, 30143024). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00619.; Changed publications to: 29243736, 12089525, 24637349, 26490182, 19014451, 16876512, 30143024, 24045990; Changed phenotypes to: HSF4-related cataract (monoallelic), MONDO:0007290, OMIM:116800.0, CATARACT 5, MULTIPLE TYPES, OMIM:116800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSF4 | Achchuthan Shanmugasundram reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16876512, 12089525, 29243736, 24637349; Phenotypes: CATARACT 5, MULTIPLE TYPES, OMIM:116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HSF4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HSF4 was changed from Other - please provide details in the comments to Other Publications for gene: HSF4 were updated from 12089525 to 16876512; 12089525; 29243736; 24637349 |
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| DDG2P v0.2 | HSF4 | Rebecca Foulger reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HSF4 | Rebecca Foulger Added phenotypes CATARACT ZONULAR HSF4-RELATED 116800 for gene: HSF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HSF4 |
Rebecca Foulger gene: HSF4 was added gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSF4 were set to 12089525 Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800 Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments |
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