Inherited bleeding disorders

Gene: ORAI1

Amber List (moderate evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Variants in STIM1 result in activation of ORAI1 peptide function which was predicted result in increased ORAI1 (610277)-mediated calcium influx in Stormorken syndrome 185070 (PMID 24619930). However, variants in ORAI1 have not been associated with this or other bleeding disorders. PMID: 26469693 states: “By contrast, autosomal dominant gain-of-function mutations in these genes [ORAI1 and STIM1] result in constitutive CRAC channel activation, SOCE, and increased intracellular Ca2+ levels that are associated with an overlapping spectrum of diseases, including non-syndromic tubular aggregate myopathy (TAM) and York platelet and Stormorken syndromes, two syndromes defined, besides myopathy, by thrombocytopenia, thrombopathy, and bleeding diathesis.”
Created: 6 Feb 2018, 1:46 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Green gene for PID/myopathy but not for inherited bleeding platelet disorders (ITP in single patient) reported in NIHRRD-BR BRIDGE project
Created: 18 Sep 2018, 10:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Stormorken syndrome

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Stormorken syndrome

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Stormorken syndrome
OMIM
610277
Clinvar variants
Variants in ORAI1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Feb 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ORAI1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ORAI1 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ORAI1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene