Mitochondrial disorders

Gene: MSTO1

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, 3:51 p.m. | Last Modified: 26 Sep 2024, 3:51 p.m.

Panel Version: 7.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.

Created: 20 Feb 2024, 2:13 p.m. | Last Modified: 20 Feb 2024, 2:13 p.m.

Panel Version: 4.159

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, 1:04 p.m. | Last Modified: 20 Feb 2024, 1:04 p.m.

Panel Version: 4.157

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 4 unrelated recessive families with functional studies; 1 dominant family with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).

Created: 23 May 2019, 2:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal