Limb girdle muscular dystrophy

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 9 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 4:39 p.m. | Last Modified: 28 Nov 2019, 4:39 p.m.
Panel Version: 1.136
Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 4:39 p.m. | Last Modified: 28 Nov 2019, 4:39 p.m.
Panel Version: 1.135

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

new gene addedCurrently provided as part of our LGMD panel at HSS LGMD in Ncl.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Louise Daugherty (Genomics England Curator)

I don't know

New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Created: 21 Oct 2019, 11 a.m.

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

Phenotypes
Myopathy, tubular aggregate, 2, 615883

Details

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

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

21 Oct 2019, Gel status: 1

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ORAI1. Source Yorkshire and North East GLH was added to ORAI1.

21 Oct 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 Limb girdle muscular dystrophy. Sources: Expert Review 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 Review for gene: ORAI1 was set to AMBER