Amelogenesis imperfecta
Gene: STIM1EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Recessive STIM1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy). This includes hypo mineralised amelogenesis imperfecta.Created: 13 Aug 2021, 12:57 a.m. | Last Modified: 13 Aug 2021, 12:57 a.m.
Panel Version: 0.43
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 10, MIM# 612783
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Immunodeficiency 10, MIM# 612783
- Hypomineralised amelogenesis imperfecta
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- None
- Publications
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STIM1 were changed from Immunodeficiency 10, 612783 to Immunodeficiency 10, MIM# 612783; Hypomineralised amelogenesis imperfecta
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STIM1 was added gene: STIM1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182 Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783