Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | MITOCHONDRIAL | Phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL, CARDIOMYOPATHY, INFANTILE HISTIOCYTOID, MULTISYSTEM DISORDER, EXERCISE INTOLERANCE, PARKINSONISM/MELAS OVERLAP SYNDROME, EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA, LEBER OPTIC ATROPHY |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | MITOCHONDRIAL | Phenotypes LEBER OPTIC ATROPHY, ENCEPHALOMYOPATHY, MITOCHONDRIAL, MULTISYSTEM DISORDER, EXERCISE INTOLERANCE, CARDIOMYOPATHY, INFANTILE HISTIOCYTOID, EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA, PARKINSONISM/MELAS OVERLAP SYNDROME |