Congenital muscular dystrophy and congenital myopathy
Gene: ORAI1EnsemblGeneIds (GRCh38): ENSG00000276045
EnsemblGeneIds (GRCh37): ENSG00000182500
OMIM: 610277, Gene2Phenotype
ORAI1 is in 8 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Mode of inheritance updatedCreated: 22 Feb 2017, 12:14 p.m.
Comment on list classification: Above PMIDs have 6 unrelated families with mutations in ORAI1 and a muscle phenotype that includes weakness. Mostly childhood onset. All reported cases are missense mutations with postulated activating mechanism. Note that compound heterozygous / homozygous mutations reported in association with immunodeficiency.Created: 3 Feb 2017, 12:27 p.m.
Comment when marking as ready: Above PMIDs have 6 unrelated families with mutations in ORAI1 and a muscle phenotype that includes weakness. Mostly childhood onset.Created: 3 Feb 2017, 12:26 p.m.
Above PMIDs have 6 unrelated families with mutations in ORAI1 and a muscle phenotype that includes weakness. Mostly childhood onset. All reported cases are missense mutations with postulated activating mechanism. Note that compound heterozygous / homozygous mutations reported in association with immunodeficiency.Created: 31 Jan 2017, 12:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 2 615883
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- Expert Review Green
- NHS GMS
- Expert
- UKGTN
- Phenotypes
-
- Myopathy, tubular aggregate, 2, OMIM:615883
- Tags
- OMIM
- 610277
- Clinvar variants
- Variants in ORAI1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: ORAI1 was added gene: ORAI1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Expert,NHS GMS,Expert Review Green,London South GLH missense tags were added to gene: ORAI1. Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ORAI1 were set to 28058752; 25227914 Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883 Penetrance for gene: ORAI1 were set to Complete