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  2. Disorders of immune dysregulation
  3. STX11
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Disorders of immune dysregulation

Gene: STX11

Green List (high evidence)
STX11 (syntaxin 11)
EnsemblGeneIds (GRCh38): ENSG00000135604
EnsemblGeneIds (GRCh37): ENSG00000135604
OMIM: 605014, Gene2Phenotype
STX11 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 23 Mar 2022, 10:08 a.m. | Last Modified: 23 Mar 2022, 10:08 a.m.
Panel Version: 0.112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552

Publications

Created: 23 Mar 2022, 10:08 a.m.
Last Modified: 23 Mar 2022, 10:08 a.m.
Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
OMIM
605014
Clinvar variants
Variants in STX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stx11 has been classified as Green List (High Evidence).

23 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552

23 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STX11 were set to

23 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STX11 was added gene: STX11 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: STX11 was set to Unknown