Transplant Co-Morbidity Superpanel
Gene: STIM1
STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: STIM1 was added gene: STIM1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,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