MSTO1

misato 1, mitochondrial distribution and morphology regulator
OMIM: 617619
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 3.1
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: R21, R412
Signed-off version 2.4
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: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia, OMIM:617675
R-numbers: R54
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia OMIM:617675, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia OMIM:617675, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
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: R63
Signed-off version 2.2
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: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia, OMIM:617675