Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 2.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leigh syndrome 256000 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Leigh syndrome, 256000 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial Diseases, Isolated complex I deficiency, Leigh syndrome, 256000, Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial Respiratory Chain Complex I Deficiency |
R-numbers: R353 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex I deficiency, Leigh syndrome, 256000, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex I Deficiency |
R-numbers: R63 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243 |