MSTO1

misato 1, mitochondrial distribution and morphology regulator
OMIM: 617619, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green MSTO1 in Ataxia and cerebellar anomalies - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, mitochondrial, and ataxia OMIM:617675
    • mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
    Tags
    • Q1_24_MOI
    Green MSTO1 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    Phenotypes
    • Myopathy, mitochondrial, and ataxia, OMIM:617675
    Tags
    • Q1_24_MOI
    Green MSTO1 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.131
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Myopathy, mitochondrial, and ataxia OMIM:617675
    • mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
    Tags
    • Q1_24_MOI
    Green MSTO1 in Possible mitochondrial disorder - nuclear genes


    Version 3.89
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Myopathy, mitochondrial, and ataxia OMIM:617675
    • mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
    Tags
    • Q1_24_MOI
    Green MSTO1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, mitochondrial, and ataxia, OMIM:617675
    • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
    Tags
    • Q1_24_MOI
    Green MSTO1 in Growth failure in early childhood


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Myopathy, mitochondrial, and ataxia, OMIM:617675
    Tags
    • Q1_24_MOI
    Green MSTO1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Myopathy, mitochondrial, and ataxia OMIM:617675
    • mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
    Tags
    • Q1_24_MOI
    Green MSTO1 in Hereditary ataxia with onset in adulthood


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Myopathy, mitochondrial, and ataxia OMIM:617675
    • mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
    Tags
    • Q1_24_MOI
    Green MSTO1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, mitochondrial, and ataxia, OMIM:617675
    Green MSTO1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, mitochondrial, and ataxia, 617675