Congenital muscular dystrophy and congenital myopathy

Gene: MSTO1

Comment on mode of inheritance: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal as the MOI has been updated to the same on R79 following NHS Genomic Medicine Service approval.

Created: 28 Sep 2025, 8:21 p.m. | Last Modified: 28 Sep 2025, 8:21 p.m.

Panel Version: 0.238

This panel is being created as a combination of the Congenital myopathy and Congenital muscular dystrophy panels. Currently on the Congenital muscular dystrophy panel this gene has a mode of inheritance of 'Both mono and biallelic' so I have reverted the mode of inheritance on this panel to reflect that, and added the Q2_24_MOI tag to this gene on this panel to propose a MOI change due to the report in the Gal et al 2023 (see review below).

Created: 6 Apr 2024, 3:42 p.m. | Last Modified: 6 Apr 2024, 3:42 p.m.

Panel Version: 0.226

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, 1:06 p.m. | Last Modified: 20 Feb 2024, 1:06 p.m.

Panel Version: 0.223

Comment on phenotypes:
Congenital muscular dystrophy with Brain involvment

Created: 15 Apr 2021, 4:36 p.m. | Last Modified: 15 Apr 2021, 4:37 p.m.

Panel Version: 2.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378;29339779) of patients with different variants in this gene who have muscular dystrophy.

Created: 6 Aug 2019, 3:38 p.m. | Last Modified: 7 Aug 2019, 10:49 a.m.

Panel Version: 1.58

Comment on mode of inheritance: PMID: 28554942 reported on a case of patient who is heterozygous for a variant in this gene. While the other PMIDs reported on biallelic cases.

Created: 6 Aug 2019, 3:30 p.m. | Last Modified: 6 Aug 2019, 3:30 p.m.

Panel Version: 1.53

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 29 Apr 2019, 3:37 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675

Publications

• 28544275