Congenital myopathy

Gene: ORAI1

I don't know

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.

Green List (high evidence)

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

Phenotypes
Myopathy, tubular aggregate, 2 615883

Publications

• 28058752
• 25227914

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

Green List (high evidence)

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

Phenotypes
Myopathy, tubular aggregate, 2 615883

Publications

• 28058752
• 25227914

Green List (high evidence)

Comment when marking as ready: Mode of inheritance updated

Created: 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

• PMID 28058752
• 25227914

Mode of pathogenicity
Other