| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary ovarian insufficiency v1.49 | ZSWIM7 | Ivone Leong Classified gene: ZSWIM7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.49 | ZSWIM7 | Ivone Leong Added comment: Comment on list classification: New gene added by Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Currently there is only 1 case (2 affected sisters) with POI associated with this gene. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.49 | ZSWIM7 | Ivone Leong Gene: zswim7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.47 | ZSWIM7 | Andrey Gagunashvili changed review comment from: Sources: Literature, Research; to: Sources: Literature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.47 | ZSWIM7 | Andrey Gagunashvili edited their review of gene: ZSWIM7: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.47 | ZSWIM7 |
Andrey Gagunashvili gene: ZSWIM7 was added gene: ZSWIM7 was added to Primary ovarian insufficiency. Sources: Literature,Research Mode of inheritance for gene: ZSWIM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSWIM7 were set to 34402903 Phenotypes for gene: ZSWIM7 were set to Primary ovarian insufficiency; absent puberty; primary amenorrhea Penetrance for gene: ZSWIM7 were set to Complete Mode of pathogenicity for gene: ZSWIM7 was set to Other Review for gene: ZSWIM7 was set to AMBER Added comment: Sources: Literature, Research |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||