| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462, Mitochondrial myopathy and sideroblastic anemia 1, MLASA, Intellectual disability |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Mitochondrial myopathy and sideroblastic anemia 1, 600462 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Mitochondrial myopathy and sideroblastic anemia 1, 600462 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1, Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462, 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia |