| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388, refractory epilepsy, refractory focal status epilepticus |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388, Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 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 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes OPTIC ATROPHY 5, 610708 |
R-numbers: R63 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388, Optic atrophy 5, 610708 |