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 Myopathy, mitochondrial, and ataxia OMIM:617675, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 |
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 4.24 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 |
R-numbers: R54 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, mitochondrial, and ataxia OMIM:617675, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 |
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 Myopathy, mitochondrial, and ataxia OMIM:617675, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, mitochondrial, and ataxia OMIM:617675, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 |
R-numbers: R63 Signed-off version 3.105 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myopathy, mitochondrial, and ataxia OMIM:617675, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 |