Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.86 | MDM1 |
Siying Lin gene: MDM1 was added gene: MDM1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDM1 were set to PMID: 41742423 Phenotypes for gene: MDM1 were set to Retinal dystrophy Penetrance for gene: MDM1 were set to unknown Mode of pathogenicity for gene: MDM1 was set to Other Review for gene: MDM1 was set to GREEN Added comment: Recent publication (PMID: 41742423) reporting 6 affected individuals from 5 families with biallelic loss of function variants in MDM1 (also known as SAXO6) and retinal dystrophy Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||