| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Amelogenesis imperfecta v0.67 | KCNJ1 | Zornitza Stark Marked gene: KCNJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.67 | KCNJ1 | Zornitza Stark Gene: kcnj1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.1 | KCNJ1 | Meaghan Wall changed review comment from: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous mutation of exon 5 of the KCNJ1.; to: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous variant in exon 5 of KCNJ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.1 | KCNJ1 | Meaghan Wall reviewed gene: KCNJ1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23341834; Phenotypes: Amelogenesis imperfecta, Bartter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.0 | KCNJ1 |
Zornitza Stark gene: KCNJ1 was added gene: KCNJ1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ1 were set to 23341834 Phenotypes for gene: KCNJ1 were set to Amelogenesis Imperfecta; Bartter syndrome, type 2, 241200 |
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