Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Hypophosphataemia or ricketsR-numbers: R154 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypophosphatemic rickets with hypercalciuria (241530) |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Hypophosphatemic rickets with hypercalciuria, OMIM:241530, HHRH, hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypophosphatemic rickets with hypercalciuria 241530 |
R-numbers: R257 Signed-off version 4.4 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431, HHRH, Hypophosphatemic rickets with hypercalciuria, OMIM:241530 |