Primary ovarian insufficiency
Gene: ZSWIM7Comment 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.Created: 28 Sep 2021, 12:11 p.m. | Last Modified: 28 Sep 2021, 12:11 p.m.
Panel Version: 1.49
Sources: LiteratureCreated: 26 Sep 2021, 1:52 p.m. | Last Modified: 26 Sep 2021, 1:57 p.m.
Panel Version: 1.47
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency; absent puberty; primary amenorrhea
Publications
Mode of pathogenicity
Other
Gene: zswim7 has been classified as Red List (Low Evidence).
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