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Fetal anomalies

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 9 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

MOI previously listed as both monoallelic/biallelic. Multiple reports of biallelic variants in association with mitochondrial myopathy, cerebellar atrophy and ataxia. No evidence that monoallelic variants are associated with any phenotype; a heterozygous variant previously reported as disease-causing has subsequently been shown to be a polymorphism in the MSTO2P pseudogene (PMID: 37431816).
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia, MIM#617675

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Created: 20 Feb 2024, 2:10 p.m. | Last Modified: 20 Feb 2024, 2:10 p.m.
Panel Version: 3.135
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, 1:03 p.m. | Last Modified: 20 Feb 2024, 1:03 p.m.
Panel Version: 3.133

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2024, 1:03 p.m.
Last Modified: 20 Feb 2024, 1:03 p.m.
Panel version: 3.133

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 29 Jan 2021, 3:32 p.m. | Last Modified: 29 Jan 2021, 3:32 p.m.
Panel Version: 1.263
Created: 29 Jan 2021, 3:32 p.m.
Last Modified: 29 Jan 2021, 3:32 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Created: 28 Jan 2021, 5:13 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia

Created: 28 Jan 2021, 5:13 p.m.

Panel version: 1.214

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Myopathy, mitochondrial, and ataxia, OMIM:617675
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
OMIM
617619
Clinvar variants
Variants in MSTO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: MSTO1. Tag Q1_24_MOI was removed from gene: MSTO1.

25 Feb 2025, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

21 Feb 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: MSTO1.

20 Feb 2025, Gel status: 3

Added New Source, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MSTO1. Publications for gene: MSTO1 were updated from 29339779; 28544275; 31604776; 31130378; 28554942; 37431817 to 31463572; 37431817; 28554942; 29339779; 28544275; 30684668; 31130378; 31604776

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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_24_MOI tag was added to gene: MSTO1.

20 Feb 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: MSTO1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MSTO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MSTO1 were set to

29 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714

29 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: msto1 has been classified as Amber List (Moderate Evidence).

29 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: MSTO1.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: MSTO1 was added gene: MSTO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia Review for gene: MSTO1 was set to GREEN