Bleeding and platelet disorders

Gene: STX11

Red List (low evidence)

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

4 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

I don't know

Steve Keeney (Central Manchester Foundation Trust)

Red List (low evidence)

Insufficient evidence to include - primary association of variants in this gene relate to familial hemophagocytic lymphohistiocytosis. Reports of increased bleeding tendency are secondary to this.
Created: 13 Mar 2019, 11:40 a.m.
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group
Created: 18 Feb 2019, 11:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Demoted from Green to Red. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc). Also considered Steve Keeney Red rating.
Created: 28 May 2019, 4:01 p.m.
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Created: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STX11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted
Created: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STX11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): 28399723
Created: 5 Feb 2019, 1:26 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 11:19 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • North West GLH
  • NHS GMS
  • Wessex and West Midlands GLH
OMIM
605014
Clinvar variants
Variants in STX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 May 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: stx11 has been classified as Red List (Low Evidence).

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to STX11.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STX11.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STX11. Mode of inheritance for gene STX11 was changed from to BIALLELIC, autosomal or pseudoautosomal Publications for gene STX11 were changed from to 28399723 Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: STX11 was added gene: STX11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: STX11 was set to