Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.192 | HIST1H4J | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST1H4J was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HIST1H4J | Achchuthan Shanmugasundram edited their review of gene: HIST1H4J: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H4C11-related intellectual disability with facial dysmorphism are moderate, monoallelic_autosomal and undetermined (PMIDs: 31804630, 35202563). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02441.; Changed publications to: 31804630, 35202563; Changed phenotypes to: MONDO:0030730, Intellectual disability with facial dysmorphism, OMIM:619759.0, H4C11-related intellectual disability with facial dysmorphism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4J | Achchuthan Shanmugasundram reviewed gene: HIST1H4J: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Intellectual disability with facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HIST1H4J |
Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4J. Mode of pathogenicity for gene HIST1H4J was changed from Other - please provide details in the comments to Other Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | HIST1H4J | Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4J. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | HIST1H4J | Louise Daugherty commented on gene: HIST1H4J | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIST1H4J | Rebecca Foulger reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HIST1H4J |
Rebecca Foulger gene: HIST1H4J was added gene: HIST1H4J was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H4J were set to Intellectual disability with facial dysmorphism Mode of pathogenicity for gene: HIST1H4J was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||