Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.336 | SHMT2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SHMT2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SHMT2 | Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SHMT2-related neurodevelopmental syndrome are strong, biallelic_autosomal and undetermined (PMID:33015733). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03048.; Changed phenotypes to: OMIM:619121.0, MONDO:0030866, SHMT2-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHMT2 | Achchuthan Shanmugasundram reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33015733; Phenotypes: SHMT2-related neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SHMT2 |
Achchuthan Shanmugasundram gene: SHMT2 was added gene: SHMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to SHMT2-related neurodevelopmental syndrome Mode of pathogenicity for gene: SHMT2 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||