Congenital myopathy
Gene: ORAI1
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.
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
Phenotypes for gene: ORAI1 were changed from Myopathy, tubular aggregate, 2 615883 to Myopathy, tubular aggregate, 2, OMIM:615883
Source NHS GMS was added to ORAI1.
Source London South GLH was added to ORAI1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ORAI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ORAI1 were set to Myopathy, tubular aggregate, 2 615883
Publications for ORAI1 were set to 28058752; 25227914
ORAI1 was added to Congenital myopathypanel. Sources: Expert
ORAI1 was added to Congenital myopathypanel. Sources: UKGTN