Ataxia and cerebellar anomalies - narrow panel
Gene: MSTO1
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
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
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