Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
R-numbers: R352 Signed-off version 3.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
R-numbers: R63 Signed-off version 3.105 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528, Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
Component of the following Super Panels:
Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 |
Component of the following Super Panels:
Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |