Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Adenine phosphoribosyltransferase deficiency 614723, Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Adenine phosphoribosyltransferase deficiency 614723 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Adenine phosphoribosyltransferase deficiency, OMIM:614723 |