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  3. HS3ST6
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Hereditary angioedema

Gene: HS3ST6

Red List (low evidence)
HS3ST6 (heparan sulfate-glucosamine 3-sulfotransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000162040
EnsemblGeneIds (GRCh37): ENSG00000162040
HS3ST6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three affected individuals from a single family reported, missense variant, no functional data.
Sources: Expert list
Created: 10 Jun 2021, 11:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary angioedema-8 (HAE8), MIM#619367

Publications

Created: 10 Jun 2021, 11:18 p.m.

Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hereditary angioedema-8 (HAE8), MIM#619367
Clinvar variants
Variants in HS3ST6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hs3st6 has been classified as Red List (Low Evidence).

10 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HS3ST6 was added gene: HS3ST6 was added to Hereditary angioedema. Sources: Expert list Mode of inheritance for gene: HS3ST6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HS3ST6 were set to 33508266 Phenotypes for gene: HS3ST6 were set to Hereditary angioedema-8 (HAE8), MIM#619367 Review for gene: HS3ST6 was set to RED