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  3. STX11
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Fetal anomalies

Gene: STX11

Amber List (moderate evidence)
STX11 (syntaxin 11)
EnsemblGeneIds (GRCh38): ENSG00000135604
EnsemblGeneIds (GRCh37): ENSG00000135604
OMIM: 605014, Gene2Phenotype
STX11 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in immunodeficiency panel. Genereviews 'Individuals with STX11-fHLH appear to have a later onset of manifestations and a milder disease course than those with PRF1-fHLH and UNC13D-fHLH [Horne et al 2008a, Kram et al 2019]'. Kram et al one case presented from 18 months, milder course. Rudd et al found variants in 14% of 28 PRF1 negative FHL families. Presented from few months to few years of age. Longer periods of remission without treatment compared to other genes. Higher rate of later MDS/AML. 20% of turkish fHLH patients, v low risk in other populations. Can't see any reports of this gene presenting antenatally.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552
OMIM
605014
Clinvar variants
Variants in STX11
Penetrance
None
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: STX11 was added gene: STX11 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552