| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.57 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717, Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Auditory neuropathy and optic atrophy, 617717 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Auditory neuropathy and optic atrophy, 617717 |