Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bartter syndrome, type 1, OMIM:601678, Bartter disease type 1, MONDO:0100344 |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios, Hyperprostagladinuria, Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis, Antenatal Bartter Syndrome, Bartter syndrome, type 1, 601678 |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis, Bartter syndrome, type 1, 601678 |