Mitochondrial disorders
Gene: MSTO1Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.Created: 20 Feb 2024, 2:13 p.m. | Last Modified: 20 Feb 2024, 2:13 p.m.
Panel Version: 4.159
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: 4.157
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 4 unrelated recessive families with functional studies; 1 dominant family with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 2:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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; 29339779
Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, 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 to Myopathy, mitochondrial, and ataxia, 617675
Publications for gene: MSTO1 were set to
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).
gene: MSTO1 was added gene: MSTO1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MSTO1 was set to