Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, OMIM:251900 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 |