Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: ORAI1
Variable age of onset and presentation but adult onset, proximal weakness and increased CK all reported, agree sufficient phenotypic overlap.Created: 1 Jul 2020, 7:30 a.m. | Last Modified: 1 Jul 2020, 7:30 a.m.
Panel Version: 0.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 2 (MIM#615883)
OMIM notes both proximal and diffuse muscle weakness. There is some phenotypic overlap.
PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
Sources: Expert ReviewCreated: 30 Jun 2020, 10:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 2 (MIM#615883)
Publications
PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)Created: 20 Apr 2020, 5:58 a.m. | Last Modified: 20 Apr 2020, 6:03 a.m.
Panel Version: 0.2440
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive myopathy; contractures
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Gene: orai1 has been classified as Green List (High Evidence).
Gene: orai1 has been classified as Amber List (Moderate Evidence).
Gene: orai1 has been classified as Amber List (Moderate Evidence).
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 Publications for gene: ORAI1 were set to 31448844 Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 (MIM#615883) Review for gene: ORAI1 was set to AMBER