Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.203 | HYLS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HYLS1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HYLS1 | Achchuthan Shanmugasundram edited their review of gene: HYLS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HYLS1-related hydrolethalus syndrome are definitive, biallelic_autosomal and undetermined (PMID:15843405). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00504.; Changed phenotypes to: MONDO:0009365, OMIM:236680.0, HYLS1-related hydrolethalus syndrome, HYDROLETHALUS SYNDROME TYPE 1, OMIM:236680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYLS1 | Achchuthan Shanmugasundram reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15843405; Phenotypes: HYDROLETHALUS SYNDROME TYPE 1, OMIM:236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HYLS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HYLS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HYLS1 | Rebecca Foulger reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HYLS1 |
Rebecca Foulger gene: HYLS1 was added gene: HYLS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 15843405 Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1 236680 Mode of pathogenicity for gene: HYLS1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||