Ataxia and cerebellar anomalies - narrow panel

Gene: MSTO1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.

Panel Version: 3.30

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: 26 Sep 2024, 12:35 p.m. | Last Modified: 26 Sep 2024, 12:35 p.m.

Panel Version: 6.3

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

Created: 20 Feb 2024, 2:19 p.m. | Last Modified: 20 Feb 2024, 2:19 p.m.

Panel Version: 4.56

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, 1:02 p.m. | Last Modified: 20 Feb 2024, 1:02 p.m.

Panel Version: 4.54

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least eight variants reported in five unrelated cases of recessive Myopathy, mitochondrial, and ataxia and one variant reported in dominant Myopathy, mitochondrial, and ataxia in one family, together with supportive functional studies (PMID 28554942).

Created: 15 Apr 2021, 4:49 p.m. | Last Modified: 15 Apr 2021, 4:49 p.m.

Panel Version: 2.110

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 15 Apr 2021, 4:40 p.m. | Last Modified: 15 Apr 2021, 4:40 p.m.

Panel Version: 2.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy and ataxia. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established.
Sources: Expert list

Created: 12 Sep 2020, 6:30 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia, MIM# 617675

Publications

• 28554942
• 28544275
• 31604776
• 31463572
• 31130378
• 30684668
• 29339779

Variants in this GENE are reported as part of current diagnostic practice