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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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Hyperinflammatory disorder, onset in early childhood or infancy. Features include fever, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia, hypofibrinogenaemia, and neurological abnormalities, ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia (PMID: 16582076)
Created: 6 Jan 2025, 3:33 a.m. | Last Modified: 6 Jan 2025, 3:33 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552

Publications

Created: 6 Jan 2025, 3:33 a.m.
Last Modified: 6 Jan 2025, 3:33 a.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
OMIM
605014
Clinvar variants
Variants in STX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) to Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STX11 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) for gene: STX11

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STX11 was added gene: STX11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)