Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.250 | MMGT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMGT1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MMGT1 | Achchuthan Shanmugasundram commented on gene: MMGT1: The DDG2P confidence category, allelic requirement and molecular mechanism for MMGT1-related developmental disorder are moderate, monoallelic_X_hemizygous and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03016. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | MMGT1 | Achchuthan Shanmugasundram commented on gene: MMGT1: The OMIM entry for this gene is OMIM:301098, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | MMGT1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MMGT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMGT1 | Achchuthan Shanmugasundram reviewed gene: MMGT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: MMGT1-related developmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MMGT1 |
Achchuthan Shanmugasundram gene: MMGT1 was added gene: MMGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MMGT1 were set to 33057194 Phenotypes for gene: MMGT1 were set to MMGT1-related developmental disorder Mode of pathogenicity for gene: MMGT1 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||