Hereditary ataxia with onset in adulthood

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, 1:07 p.m. | Last Modified: 26 Sep 2024, 1:07 p.m.

Panel Version: 6.7

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, 2:14 p.m. | Last Modified: 20 Feb 2024, 2:14 p.m.

Panel Version: 4.30

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: 4.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

7 DM mutations with relevant phenotype in HGMD of ataxia or cerebellar atrophy. Overlap with mitochondrial panel. 5 studies on OMIM.

Created: 27 Apr 2019, 7:39 p.m.

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 15 Apr 2019, 10:21 a.m.

Green List (high evidence)

Three families with multiple variants for AR and good evidence for gene. Evidence for AD is limited to segregation amongst three siblings and their similarly affected mother in only a single family, however analysis in patient fibroblasts consistent with the findings in AR disease - in addition other genes involved in mitochondrial dynamics have both AD and AR variants (e.g. OPA1, MFN2)

Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial myopathy and ataxia