Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: STIM1EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
A myopathy rather than LGMD.Created: 29 Jun 2020, 10:11 a.m. | Last Modified: 29 Jun 2020, 10:11 a.m.
Panel Version: 0.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 1 (MIM#160565); Stormorken syndrome (MIM#185070)
Crystle Lee (Victorian Clinical Genetics Services)
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)
PMID: 31448844: Review article. Dominant STIM1 missense variants exert gain of function effect. Variants in EF hand reported in >3 families with childhood and adulthood onset of LGMD.
Sources: Expert ReviewCreated: 29 Jun 2020, 1:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 1 (MIM#160565); Stormorken syndrome (MIM#185070)
Publications
Mode of pathogenicity
Other
Natalie Tan (Victorian Clinical Genetics Services)
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, 6:02 a.m. | Last Modified: 20 Apr 2020, 6:02 a.m.
Panel Version: 0.2440
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, immunodeficiency
Publications
- PMID: 31448844
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Myopathy, tubular aggregate, 1 (MIM#160565)
- Stormorken syndrome (MIM#185070)
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stim1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stim1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Crystle Lee (Victorian Clinical Genetics Services)gene: STIM1 was added gene: STIM1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STIM1 were set to 31448844 Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 1 (MIM#160565); Stormorken syndrome (MIM#185070) Mode of pathogenicity for gene: STIM1 was set to Other Review for gene: STIM1 was set to GREEN