Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPEROXALURIA, PRIMARY, TYPE 1 259900 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Primary hyperoxaluria type I (Other peroxisomal disorders), Primary hyperoxaluria type I (Disorders of glyoxylate metabolism), Hyperoxaluria, primary, type 1 |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Primary Hyperoxaluria Type 1, Primary Hyperoxaluria, Hyperoxaluria, primary, type 1, 259900, Hyperoxaluria, primary hyperoxaluria |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperoxaluria, primary, type 1, 259900, Primary Hyperoxaluria, Hyperoxaluria, primary hyperoxaluria, Primary Hyperoxaluria Type 1 |