MSTO1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green MSTO1 in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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 4.24 Latest signed off version: v4.23 (1 May 2024) 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 5.3 Latest signed off version: v5.0 (1 May 2024) 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 3.106 Latest signed off version: v3.105 (1 May 2024)	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 4.1 Latest signed off version: v4.0 (1 May 2024)	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 3.95 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_NHS_review Q1_24_MOI
Green MSTO1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) 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 5.3 Latest signed off version: v5.0 (1 May 2024)	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 5.4 Latest signed off version: v5.0 (1 May 2024)	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 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Myopathy, mitochondrial, and ataxia, 617675
Green MSTO1 in Congenital muscular dystrophy and congenital myopathy Version 0.230	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London South GLH Expert Review Green NHS GMS Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags Q2_24_MOI
Green MSTO1 in Monogenic short stature Version 0.170	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Literature Expert Review Green Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags Q1_24_MOI Q1_24_NHS_review