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STRs in panel
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Primary immunodeficiency

Gene: HS3ST6

Red List (low evidence)

HS3ST6 (heparan sulfate-glucosamine 3-sulfotransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000162040
EnsemblGeneIds (GRCh37): ENSG00000162040
HS3ST6 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Red as only a single family has been reported at this time (PMID:33508266)
Created: 15 Jun 2021, 9:39 a.m. | Last Modified: 15 Jun 2021, 9:39 a.m.
Panel Version: 2.428

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Three affected individuals from a single family reported, missense variant, no functional data.
Sources: Literature
Created: 11 Jun 2021, 10:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Angioedema, hereditary, 8, OMIM:619367
Clinvar variants
Variants in HS3ST6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HS3ST6 were changed from Hereditary angioedema-8 (HAE8), MIM#619367 to ?Angioedema, hereditary, 8, OMIM:619367

15 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

11 Jun 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HS3ST6 was added gene: HS3ST6 was added to Primary immunodeficiency. Sources: Literature 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