Ataxia and cerebellar anomalies - narrow panel
Gene: MSTO1
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
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
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 listCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
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 28554942; 28544275; 31604776; 31463572; 31130378; 30684668; 29339779
Tag Q2_21_rating was removed from gene: MSTO1.
Source Expert Review Green was added to MSTO1. Source NHS GMS was added to MSTO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: MSTO1.
Gene: msto1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, MIM# 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
gene: MSTO1 was added gene: MSTO1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 28554942; 28544275; 31604776; 31463572; 31130378; 30684668; 29339779 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM# 617675 Review for gene: MSTO1 was set to GREEN gene: MSTO1 was marked as current diagnostic