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  3. ZSWIM7
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Primary ovarian insufficiency

Gene: ZSWIM7

Red List (low evidence)
ZSWIM7 (zinc finger SWIM-type containing 7)
EnsemblGeneIds (GRCh38): ENSG00000214941
EnsemblGeneIds (GRCh37): ENSG00000214941
OMIM: 614535, Gene2Phenotype
ZSWIM7 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 28 Sep 2021, 12:11 p.m. | Last Modified: 28 Sep 2021, 12:11 p.m.
Panel Version: 1.49
Created: 28 Sep 2021, 12:11 p.m.
Last Modified: 28 Sep 2021, 12:11 p.m.
Panel version: 1.49

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

Red List (low evidence)

Sources: Literature
Created: 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

Created: 26 Sep 2021, 1:52 p.m.
Last Modified: 26 Sep 2021, 1:57 p.m.
Panel version: 1.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Primary ovarian insufficiency
  • absent puberty
  • primary amenorrhea
OMIM
614535
Clinvar variants
Variants in ZSWIM7
Penetrance
Complete
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: zswim7 has been classified as Red List (Low Evidence).

26 Sep 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

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