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  3. MSTO1
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Ataxia - adult onset

Gene: MSTO1

Green List (high evidence)
MSTO1 (misato 1, mitochondrial distribution and morphology regulator)
EnsemblGeneIds (GRCh38): ENSG00000125459
EnsemblGeneIds (GRCh37): ENSG00000125459
OMIM: 617619, Gene2Phenotype
MSTO1 is in 10 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714

Publications

Created: 20 Jan 2022, 10:19 p.m.
Last Modified: 20 Jan 2022, 10:19 p.m.
Panel version: Imported from Mendeliome panel version 0.10708

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established.
Created: 17 Jan 2022, 4:09 a.m. | Last Modified: 17 Jan 2022, 4:09 a.m.
Panel Version: 0.10640

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia, MIM# 617675

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2022, 4:09 a.m.
Last Modified: 17 Jan 2022, 4:09 a.m.
Panel version: Imported from Mendeliome panel version 0.10640

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset usually in early childhood.
Sources: Expert list
Created: 16 Apr 2020, 11:48 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia MIM#617675

Created: 16 Apr 2020, 11:48 p.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.131

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial myopathy and ataxia, 617675
OMIM
617619
Clinvar variants
Variants in MSTO1
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MSTO1 was added gene: MSTO1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSTO1 were set to Mitochondrial myopathy and ataxia, 617675