Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.185 | GNB2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNB2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GNB2 | Achchuthan Shanmugasundram edited their review of gene: GNB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNB2-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 28219978, 31698099, 33057194, 34183358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02876.; Changed publications to: 28219978, 31698099, 34183358, 33057194; Changed phenotypes to: OMIM:619503.0, GNB2-related developmental disorder (monoallelic), MONDO:0859185, GNB2-related developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB2 | Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28219978, 33057194, 34183358, 31698099; Phenotypes: GNB2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNB2 |
Achchuthan Shanmugasundram gene: GNB2 was added gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099 Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: GNB2 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||