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  2. Muscular dystrophy and myopathy_Paediatric
  3. ORAI1
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Muscular dystrophy and myopathy_Paediatric

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 10 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>4 cases with congenital myopathy. Gain of function is the mechanism of disease.
Sources: Literature
Created: 1 Aug 2024, 2:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
tubular aggregate myopathy MONDO:0008051

Publications

Mode of pathogenicity
Other

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

Created: 1 Aug 2024, 2:07 a.m.

Panel version: 1.55

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
Created: 20 Apr 2020, 11:20 a.m. | Last Modified: 20 Apr 2020, 11:20 a.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, tubular aggregate, 2, MIM# 615883

Publications

Created: 20 Apr 2020, 11:20 a.m.
Last Modified: 20 Apr 2020, 11:20 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version Imported from Myopathy panel version 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • tubular aggregate myopathy MONDO:0008051
OMIM
610277
Clinvar variants
Variants in ORAI1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: orai1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: orai1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ORAI1 was added gene: ORAI1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ORAI1 were set to 31448844; 38982518 Phenotypes for gene: ORAI1 were set to tubular aggregate myopathy MONDO:0008051 Mode of pathogenicity for gene: ORAI1 was set to Other Review for gene: ORAI1 was set to GREEN gene: ORAI1 was marked as current diagnostic