SCID
Gene: ORAI1

ORAI1 (ORAI calcium release-activated calcium modulator 1)
EnsemblGeneIds (GRCh38): ENSG00000276045
EnsemblGeneIds (GRCh37): ENSG00000182500
OMIM: 610277, Gene2Phenotype
ORAI1 is in 8 panels

4 reviews

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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.

Created: 20 May 2016, 2:18 p.m.

Panel version: 0.39

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

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.

Created: 20 Oct 2015, 1:42 p.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Red List (low evidence)

There is good evidence that AR mutations in this gene cause immune dysfunction but not SCID
Created: 19 Oct 2015, 5:45 p.m.

Phenotypes
immunodeficiency, ectodermal dysplasia and myopathy

Publications

Created: 19 Oct 2015, 5:45 p.m.

Panel version: 0

Details

Sources

Expert Review Red
Emory Genetics Laboratory

Phenotypes

T-B+ SCID
immunodeficiency, ectodermal dysplasia and myopathy

OMIM

610277

Clinvar variants

Variants in ORAI1

Penetrance

Complete

Publications

Panels with this gene