Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Renal tract calcification (or Nephrolithiasis/nephrocalcinosis), Cystinuria (Disorders of amino acid transport), Hypotonia-cystinuria syndrome (Disorders of amino acid transport) |
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 Cystinuria 220100 |
R-numbers: R257 Signed-off version 3.11 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Cystinuria 220100 |