Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Amelogenesis imperfecta v0.45 | STIM1 | Zornitza Stark Marked gene: STIM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.45 | STIM1 | Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.45 | STIM1 | Zornitza Stark Phenotypes for gene: STIM1 were changed from Immunodeficiency 10, 612783 to Immunodeficiency 10, MIM# 612783; Hypomineralised amelogenesis imperfecta | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.44 | STIM1 | Zornitza Stark Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.43 | STIM1 | Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.0 | STIM1 |
Zornitza Stark 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 |