This Panel is marked as Retired
SCID
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
3 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
Peter Arkwright (Royal Manchester Foundation Trust)
Sophie Hambleton (Newcastle University)
Mutations in this gene do not cause SCIDCreated: 19 Oct 2015, 7:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- T-B+ SCID
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Non-syndromic familial congenital anorectal malformations
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bleeding and platelet disorders
- Amelogenesis imperfecta
- Congenital myopathy
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- DDG2P
- Arthrogryposis
- Fetal anomalies
History Filter Activity
20 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)STIM1 was added to SCIDpanel. Sources: Emory Genetics Laboratory