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Mendeliome

Gene: STOX1

Red List (low evidence)

STOX1 (storkhead box 1)
EnsemblGeneIds (GRCh38): ENSG00000165730
EnsemblGeneIds (GRCh37): ENSG00000165730
OMIM: 609397, Gene2Phenotype
STOX1 is in 1 panel

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Implicated in preeclampsia/eclampsia and other gestational diseases, but to date there is no evidence that variants in this gene cause disease in humans. Kivinen et al. (2007) failed to find evidence in support of STOX1 as a preeclampsia gene in a cohort of 245 Finnish women with preeclampsia.
Created: 18 Oct 2021, 11:27 p.m. | Last Modified: 18 Oct 2021, 11:27 p.m.
Panel Version: 0.9406

Mode of inheritance
Unknown

Phenotypes
Preeclampsia/eclampsia 4 (MIM#609404)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Preeclampsia/eclampsia 4 (MIM#609404)
OMIM
609397
Clinvar variants
Variants in STOX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stox1 has been classified as Red List (Low Evidence).

19 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STOX1 were changed from to Preeclampsia/eclampsia 4 (MIM#609404)

19 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STOX1 were set to

19 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stox1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STOX1 was added gene: STOX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STOX1 was set to Unknown