Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Gitelman syndrome (Disorder of magnesium metabolism), Renal tubular acidosis |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria, Gitelman syndrome, 263800 |