Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes hypomagnesaemia, nephrocalcinosis, salt wasting, cardiomyopathy, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes hypomagnesaemia, cardiomyopathy, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes hypomagnesaemia, cardiomyopathy, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 |