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Gene: ORAI1

ORAI1 (ORAI calcium release-activated calcium modulator 1)
EnsemblGeneIds (GRCh38): ENSG00000276045
EnsemblGeneIds (GRCh37): ENSG00000182500
OMIM: 610277, Gene2Phenotype
ORAI1 is in 10 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel. Onset in the neonatal period.

Myopathy, tubular aggregate, 2 is a slowly progressive myopathy with a variable age of onset (childhood-adulthood) and severity.

Well-established gene-disease association.
Created: 31 Jan 2025, 2:24 a.m. | Last Modified: 31 Jan 2025, 2:24 a.m.

Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 9, MIM#612782; Myopathy, tubular aggregate, 2, MIM#615883

Publications

Created: 31 Jan 2025, 2:24 a.m.
Last Modified: 31 Jan 2025, 2:24 a.m.
Panel version: 1.1397

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Immunodeficiency 9, 612782 (3)

OMIM

610277

Clinvar variants

Variants in ORAI1

Penetrance

None

Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ORAI1 was added gene: ORAI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)

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