Muscular dystrophy and myopathy_Paediatric

Gene: STIM1

Green List (high evidence)

STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>4 cases with congenital myopathy. Gain of function is the mechanism of disease.
Sources: Literature
Created: 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • tubular aggregate myopathy MONDO:0008051
OMIM
605921
Clinvar variants
Variants in STIM1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: stim1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: stim1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

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