Bleeding and Platelet Disorders
Gene: STIM1EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, mild bleeding tendency due to platelet dysfunction and thrombocytopaenia.
Sources: Expert listCreated: 16 Aug 2020, 5:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stormorken syndrome, MIM# 185070
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, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Stormorken syndrome, MIM# 185070
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- None
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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 Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STIM1 was added gene: STIM1 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STIM1 were set to Stormorken syndrome, MIM# 185070 Review for gene: STIM1 was set to GREEN