This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: STIM1
STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Non-syndromic familial congenital anorectal malformations
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bleeding and platelet disorders
- Arthrogryposis
- Amelogenesis imperfecta
- Congenital myopathy
- COVID-19 research
- Fetal anomalies
- DDG2P
- Inherited bleeding disorders
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: STIM1 was added gene: STIM1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STIM1 was set to Unknown