Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bartter syndrome 241200 |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Antenatal Bartter Syndrome, Bartter syndrome, type 2, 241200, Type 2 Bartter syndrome, often initial transient hyperkalemia |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypokalaemic alkalosis with hypercalciuria, Type 2 Bartter syndrome, often initial transient hyperkalemia, Bartter syndrome, type 2, 241200 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes often initial transient hyperkalemia, Antenatal Bartter Syndrome, Bartter syndrome, type 2, 241200, Type 2 Bartter syndrome |