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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. HS6ST1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: HS6ST1

Red List (low evidence)
HS6ST1 (heparan sulfate 6-O-sulfotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000136720
EnsemblGeneIds (GRCh37): ENSG00000136720
OMIM: 604846, Gene2Phenotype
HS6ST1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Postulated to exert an effect under a polygenic susceptibility, rather than Mendelian, model.
Created: 18 Jul 2020, 7:41 a.m. | Last Modified: 18 Jul 2020, 7:41 a.m.
Panel Version: 0.3387

Mode of inheritance
Other

Phenotypes
{Hypogonadotropic hypogonadism 15 with or without anosmia} 614880

Publications

Created: 18 Jul 2020, 7:41 a.m.
Last Modified: 18 Jul 2020, 7:41 a.m.
Panel version: Imported from Mendeliome panel version 0.3391

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Inconclusive evidence of a monogenic association with disease. There are a limited number of reports linking HS6ST1 to hypotropic hypogonadism, however most of the variants are either co-inherited with variants from other candidate genes or common in gnomAD.
Created: 6 Jul 2020, 5:07 a.m. | Last Modified: 6 Jul 2020, 5:07 a.m.
Panel Version: 0.19

Mode of inheritance
Unknown

Created: 6 Jul 2020, 5:07 a.m.
Last Modified: 6 Jul 2020, 5:07 a.m.
Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
OMIM
604846
Clinvar variants
Variants in HS6ST1
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hs6st1 has been classified as Red List (Low Evidence).

9 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hs6st1 has been classified as Red List (Low Evidence).

24 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HS6ST1 was added gene: HS6ST1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HS6ST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HS6ST1 were set to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880