Genes in panel
STRs in panel
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COVID-19 research

Gene: STIM1

Green List (high evidence)

STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 14 panels

6 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing this gene from Amber to Green as there are >3 independant cases providing association of this gene and the disorder
Created: 3 May 2018, 10 p.m.
STIM1 is associated with Immunodeficiency 10 in OMIM. OMIM lists 5 publications reporting STIM1 variants in patients with immunodeficiency; Picard et al. (2009) (PMID: 19420366), Byun et al. (2010) (PMID: 20876309), Fuchs et al. (2012) (PMID: 22190180), Wang et al. (2014) (PMID: 24621671), Parry et al. (2016) (PMID: 26560041) . No relevant disease association with this gene in Gene2Phenotype. Orphanet: the gene is associated with Combined immunodeficiency due to STIM1 deficiency (ORPHA:317430) and it states 'To date, it has been reported in 4 patients from two families.' Rating this gene as green as > 3 cases where a likely disease causing variant is found.
Created: 2 May 2018, 2:33 p.m.
Comment on phenotypes: Added MIM number to Immunodeficiency 10
Created: 2 May 2018, 2:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency due to STIM1 deficiency ORPHA:317430

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Green rating as there are sufficient cases with an immune phenotype, prior historic red ratings are due to SCID specific panel
Created: 10 Jul 2018, 4:12 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): STIM1 .PanelApp HGNC gene symbol check: STIM1 . IUIS Disease: STIM1 deficiency . IUIS Inheritance: AR .T cells: Variable, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Autoimmunity, EDA, non-progressive myopathy. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Calcium Channel Defects
Created: 2 Jul 2018, 10:35 a.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Red. The gene is present in the external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 2:06 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: STIM1, PanelApp HGNC gene symbol check: STIM1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: STIM1, GRID_Gene_Symbol: STIM1, GRID_Transcript_ENS_Community submitted: ENST00000300737, GRID_Transcript_RefSeq: NM_003156.3, GRID_Transcript_ENS_used_on_Production: ENST00000300737
Created: 17 Apr 2018, 12:12 p.m.

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Mutations in this gene do not cause SCID
Created: 19 Oct 2015, 7:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiency 10, 612783
  • Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
  • Combined immunodeficiency
  • Combined immunodeficiency due to STIM1 deficiency
  • Autoimmunity, EDA, non-progressive myopathy
  • T-B+ SCID
  • Combined immunodeficiencies with associated or syndromic features
OMIM
605921
Clinvar variants
Variants in STIM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: STIM1 was added gene: STIM1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIM1 were set to 20876309; 19420366; 24621671; 26560041; 22190180 Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783; Combined immunodeficiency due to STIM1 deficiency ORPHA:317430; Combined immunodeficiency; Combined immunodeficiency due to STIM1 deficiency; Autoimmunity, EDA, non-progressive myopathy; T-B+ SCID; Combined immunodeficiencies with associated or syndromic features