Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.279 | OTUD5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: OTUD5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | OTUD5 | Achchuthan Shanmugasundram edited their review of gene: OTUD5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OTUD5-related neurodevelopmental disorder are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 33131077, 33523931, 33748114). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03438.; Changed publications to: 33523931, 33748114, 33131077; Changed phenotypes to: OTUD5-related neurodevelopmental disorder, OMIM:301056.0, MONDO:0025351, OTUD5-associated neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTUD5 | Achchuthan Shanmugasundram reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33748114, 33131077, 33523931; Phenotypes: OTUD5-associated neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OTUD5 |
Achchuthan Shanmugasundram gene: OTUD5 was added gene: OTUD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33748114; 33131077; 33523931 Phenotypes for gene: OTUD5 were set to OTUD5-associated neurodevelopmental disorder Mode of pathogenicity for gene: OTUD5 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||