| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 |
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 Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462, Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462 |