Hereditary ataxia with onset in adulthood
Gene: MSTO1Comment 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
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.
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.
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
Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q1_24_MOI tag was added to gene: MSTO1.
Publications for gene: MSTO1 were set to
Phenotypes for gene: MSTO1 were changed from Mitochondrial myopathy and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Phenotypes for gene: MSTO1 were changed from Mitochondrial myopathy and ataxia to Mitochondrial myopathy and ataxia, 617675
Mode of inheritance for gene: MSTO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: msto1 has been classified as Green List (High Evidence).
Source London North GMS was added to MSTO1.
Added phenotypes Mitochondrial myopathy and ataxia for gene: MSTO1
Source NHS GMS was added to MSTO1.
gene: MSTO1 was added gene: MSTO1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MSTO1 was set to