Activity
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6 actions
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| DDG2P v6.186 | GRHL2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRHL2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GRHL2 | Achchuthan Shanmugasundram edited their review of gene: GRHL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRHL2-related ectodermal dysplasia and short stature syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 25152456, 27612988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00084.; Changed publications to: 25152456, 27612988; Changed phenotypes to: GRHL2-related ectodermal dysplasia and short stature syndrome, OMIM:616029.0, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, OMIM:616029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRHL2 | Achchuthan Shanmugasundram reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, OMIM:616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRHL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRHL2. Mode of pathogenicity for gene GRHL2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | GRHL2 | Rebecca Foulger reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GRHL2 |
Rebecca Foulger gene: GRHL2 was added gene: GRHL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029 Mode of pathogenicity for gene: GRHL2 was set to Other - please provide details in the comments |
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