Muscular dystrophy and myopathy_Paediatric
Gene: STIM1
>4 cases with congenital myopathy. Gain of function is the mechanism of disease.
Sources: LiteratureCreated: 1 Aug 2024, 2:01 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 STIM1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias) - Recessive STIM1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)Created: 20 Apr 2020, 11:11 p.m. | Last Modified: 20 Apr 2020, 11:11 p.m.
Panel Version: 0.98
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Publications
Gene: stim1 has been classified as Green List (High Evidence).
Gene: stim1 has been classified as Green List (High Evidence).
gene: STIM1 was added gene: STIM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STIM1 were set to 38982518; 31448844 Phenotypes for gene: STIM1 were set to tubular aggregate myopathy MONDO:0008051 Mode of pathogenicity for gene: STIM1 was set to Other Review for gene: STIM1 was set to GREEN gene: STIM1 was marked as current diagnostic