Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086, Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 |
R-numbers: R63 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 |