Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Amelogenesis imperfecta v0.41 | SLC10A7 | Zornitza Stark Marked gene: SLC10A7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.41 | SLC10A7 | Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.41 | SLC10A7 | Zornitza Stark Phenotypes for gene: SLC10A7 were changed from short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.1 | SLC10A7 | Teresa Zhao reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30082715; Phenotypes: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amelogenesis imperfecta v0.0 | SLC10A7 |
Zornitza Stark gene: SLC10A7 was added gene: SLC10A7 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 29878199; 30082715 Phenotypes for gene: SLC10A7 were set to short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis |