Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000 |
R-numbers: R54 Signed-off version 6.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000 |
R-numbers: R78 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000 |
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 Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000 |
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 Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000 |