Arthrogryposis
Gene: STIM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Highly variable phenotype but contractures have been reported in the more severely affected individuals. 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)
Created: 20 Apr 2020, 11:43 p.m. | Last Modified: 20 Apr 2020, 11:43 p.m.

Panel Version: 0.37

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070

Publications

Created: 20 Apr 2020, 11:43 p.m.
Last Modified: 20 Apr 2020, 11:43 p.m.
Panel version: 0.37

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Myopathy, tubular aggregate, 1 160565
Stormorken syndrome 185070

OMIM

605921

Clinvar variants

Variants in STIM1

Penetrance

None

Publications

Panels with this gene