Genes in panel
STRs in panel
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COVID-19 research

Gene: ORAI1

Green List (high evidence)

ORAI1 (ORAI calcium release-activated calcium modulator 1)
EnsemblGeneIds (GRCh38): ENSG00000276045
EnsemblGeneIds (GRCh37): ENSG00000182500
OMIM: 610277, Gene2Phenotype
ORAI1 is in 9 panels

8 reviews

Catherine Snow (Genomics England)

ORAI1 also applicable to panel as associations with Kawasaki disease
Created: 13 May 2020, 4:51 p.m. | Last Modified: 13 May 2020, 4:51 p.m.
Panel Version: 0.227

Publications

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

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases, together with supportive functional studies.
Created: 9 May 2018, 10:35 a.m.

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 review as there are sufficient cases with immune dysfunction in biallelic form, from the previous reviews, the previous Red rating was based upon delineation of the specific phenotypes for the specific panels. Therefore, Green rating is suitable for this panel that covers a immune dysfunction, not just SCID
Created: 10 Jul 2018, 4:10 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ORAI1 .PanelApp HGNC gene symbol check: ORAI1 . IUIS Disease: ORAI-1 deficiency . IUIS Inheritance: AR .T cells: N/A, .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: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Orai1 (TMEM142A), PanelApp HGNC gene symbol check: ORAI1, 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: ORAI1, GRID_Gene_Symbol: ORAI1, GRID_Transcript_ENS_Community submitted: ENST00000330079, GRID_Transcript_RefSeq: NM_032790.3, GRID_Transcript_ENS_used_on_Production: ENST00000330079
Created: 17 Apr 2018, 12:12 p.m.

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: After feedback from reviewers, gene should remain on the red list.
Created: 20 May 2016, 2:18 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
There are 2 publications with 3 different sets of mutations/families so although rare I would make this an amber which we don't seem to have an option of as we review. I agree with Sophie not so much SCID as CID...
Created: 20 Oct 2015, 1:42 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

As stated below, there is good evidence that AR mutations in this gene cause immunodeficiency
Created: 23 Oct 2019, 6:42 a.m. | Last Modified: 23 Oct 2019, 6:42 a.m.
Panel Version: 1.132
There is good evidence that AR mutations in this gene cause immune dysfunction but not SCID
Created: 19 Oct 2015, 5:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
immunodeficiency, ectodermal dysplasia and myopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Combined immunodeficiency
  • immunodeficiency, ectodermal dysplasia and myopathy
  • Immunodeficiency 9 612782
  • Autoimmunity, EDA, non-progressive myopathy
  • T-B+ SCID
  • Combined immunodeficiencies with associated or syndromic features
OMIM
610277
Clinvar variants
Variants in ORAI1
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: ORAI1 was added gene: ORAI1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORAI1 were set to 16582901; 20004786 Phenotypes for gene: ORAI1 were set to Combined immunodeficiency; immunodeficiency, ectodermal dysplasia and myopathy; Immunodeficiency 9 612782; Autoimmunity, EDA, non-progressive myopathy; T-B+ SCID; Combined immunodeficiencies with associated or syndromic features