Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.229 | KRT74 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KRT74 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KRT74 | Achchuthan Shanmugasundram edited their review of gene: KRT74: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KRT74-related hypotrichosis and/or woolly hair are moderate, monoallelic_autosomal and undetermined (PMIDs: 20346438, 21188418, 24714551). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00610.; Changed publications to: 24714551, 20346438, 21188418; Changed phenotypes to: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2, OMIM:613981, OMIM:613981.0, KRT74-related hypotrichosis and/or woolly hair, MONDO:0013514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRT74 | Achchuthan Shanmugasundram reviewed gene: KRT74: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21188418; Phenotypes: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2, OMIM:613981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KRT74 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KRT74. Mode of pathogenicity for gene KRT74 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KRT74 | Rebecca Foulger reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KRT74 |
Rebecca Foulger gene: KRT74 was added gene: KRT74 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT74 were set to 21188418 Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981 Mode of pathogenicity for gene: KRT74 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||