Genomics England

MSTO1

misato 1, mitochondrial distribution and morphology regulator

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	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 dystrophy and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675
Green in Fetal anomalies R-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
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	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 metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	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 disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	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 stature R-numbers: R453 Signed-off version 1.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675
Green in Possible mitochondrial disorder - nuclear genes 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 disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675