| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurometabolic disorder due to FARS2 deficiency |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 14, 614946 |
R-numbers: R61 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | 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)), Combined oxidative phosphorylation deficiency 14, 614946 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia 77, autosomal recessive, 617046, Combined oxidative phosphorylation deficiency 14, 614946 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 14, 614946 |
R-numbers: R63 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 14, 614946, Spastic paraplegia 77, autosomal recessive, 617046 |