Muscular dystrophy and myopathy_Paediatric
Gene: STIM1EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
>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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
-
- Muscular dystrophy and myopathy_Paediatric
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Prepair 1000+
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- BabyScreen+ newborn screening
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: stim1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: stim1 has been classified as Green List (High Evidence).
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