Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845, Progressive Spastic Paresis |