Activity
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6 actions
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| DDG2P v6.141 | DHRS3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHRS3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHRS3 | Achchuthan Shanmugasundram edited their review of gene: DHRS3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHRS3 related craniosynostosis are limited, biallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02351.; Changed phenotypes to: MONDO:0015469, DHRS3 related craniosynostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHRS3 | Achchuthan Shanmugasundram reviewed gene: DHRS3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DHRS3 related craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHRS3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHRS3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHRS3 | Rebecca Foulger reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DHRS3 |
Rebecca Foulger gene: DHRS3 was added gene: DHRS3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHRS3 were set to DHRS3 related craniosynostosis Mode of pathogenicity for gene: DHRS3 was set to Other - please provide details in the comments |
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