Muscular dystrophy and myopathy_Paediatric
Gene: ORAI1
>4 cases with congenital myopathy. Gain of function is the mechanism of disease.
Sources: LiteratureCreated: 1 Aug 2024, 2:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
tubular aggregate myopathy MONDO:0008051
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
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)Created: 20 Apr 2020, 11:20 a.m. | Last Modified: 20 Apr 2020, 11:20 a.m.
Panel Version: 0.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 2, MIM# 615883
Publications
Gene: orai1 has been classified as Green List (High Evidence).
Gene: orai1 has been classified as Green List (High Evidence).
gene: ORAI1 was added gene: ORAI1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ORAI1 were set to 31448844; 38982518 Phenotypes for gene: ORAI1 were set to tubular aggregate myopathy MONDO:0008051 Mode of pathogenicity for gene: ORAI1 was set to Other Review for gene: ORAI1 was set to GREEN gene: ORAI1 was marked as current diagnostic