Research panel - Severe Paediatric Disorders
Gene: MSTO1

MSTO1 (misato 1, mitochondrial distribution and morphology regulator)
EnsemblGeneIds (GRCh38): ENSG00000125459
EnsemblGeneIds (GRCh37): ENSG00000125459
OMIM: 617619, Gene2Phenotype
MSTO1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes.
There are no further reports of monoallelic Myopathy, mitochondrial, and ataxia (OMIM:617675).
Created: 20 Feb 2024, 1:02 p.m. | Last Modified: 20 Feb 2024, 1:02 p.m.

Panel Version: 1.180

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2024, 1:02 p.m.
Last Modified: 20 Feb 2024, 1:02 p.m.
Panel version: 1.180

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MSTO1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Myopathy, mitochondrial, and ataxia, 617675 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:22 p.m.
Last Modified: 20 Feb 2020, 5:22 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Myopathy, mitochondrial, and ataxia, 617675

OMIM

617619

Clinvar variants

Variants in MSTO1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Feb 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MSTO1 were set to 30847515

20 Feb 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3