Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.199 | HNRNPH2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HNRNPH2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HNRNPH2 | Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HNRNPH2-related neurodevelopmental disorder are strong, monoallelic_X_heterozygous and undetermined (PMID:27545675). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01875.; Changed phenotypes to: HNRNPH2-related neurodevelopmental disorder, Neurodevelopmental Disorder in Females, OMIM:300986.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPH2 | Achchuthan Shanmugasundram reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27545675; Phenotypes: Neurodevelopmental Disorder in Females; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HNRNPH2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HNRNPH2. Mode of pathogenicity for gene HNRNPH2 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 | HNRNPH2 | Rebecca Foulger reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HNRNPH2 |
Rebecca Foulger gene: HNRNPH2 was added gene: HNRNPH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HNRNPH2 were set to 27545675 Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females Mode of pathogenicity for gene: HNRNPH2 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||