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  2. Likely inborn error of metabolism
  3. MSTO1
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Likely inborn error of metabolism

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 3:37 p.m. | Last Modified: 26 Sep 2024, 3:37 p.m.
Panel Version: 6.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 3:37 p.m.
Last Modified: 26 Sep 2024, 3:37 p.m.
Panel version: 6.10

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, 2:24 p.m. | Last Modified: 20 Feb 2024, 2:24 p.m.
Panel Version: 4.131
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: 4.129

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: 4.129

Catherine Snow (Genomics England)

Green review on relevant panel - Possible mitochondrial disorder - nuclear genes (Version 1.12)
Created: 18 Nov 2019, 3:52 p.m. | Last Modified: 18 Nov 2019, 3:52 p.m.
Panel Version: 1.406
Created: 18 Nov 2019, 3:52 p.m.
Last Modified: 18 Nov 2019, 3:52 p.m.
Panel version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
  • 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

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_MOI was removed from gene: MSTO1.

26 Sep 2024, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MSTO1. Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

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 28554942; 28544275

15 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

18 Nov 2019, Gel status: 3

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

Catherine Snow (Genomics England)

gene: MSTO1 was added gene: MSTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 28554942; 28544275 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675