1. Panels
  2. Neuromuscular arthrogryposis
  3. ORAI1
STRs in panel
Prev Next
Regions in panel
Prev Next

Neuromuscular arthrogryposis

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 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.
Created: 16 May 2019, 9:33 p.m.

Panel version: 0.16

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Phenotypes
Myopathy, tubular aggregate, 2, 615883

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

Created: 16 May 2019, 9:27 p.m.

Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Myopathy, tubular aggregate, 2, 615883
OMIM
610277
Clinvar variants
Variants in ORAI1
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ORAI1.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ORAI1. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ORAI1 was added gene: ORAI1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, 615883