Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypokalemic-alkalotic salt-losing tubulopathy, HELIX syndrome, OMIM:617671 |
R-numbers: R257 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HELIX syndrome, OMIM:617671, Hypokalemic-alkalotic salt-losing tubulopathy |