Genomics England

MSTO1

misato 1, mitochondrial distribution and morphology regulator

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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 Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 7.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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: - Leukodystrophy, childhood onset Signed-off version 10.18	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 2.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	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 9.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675