Congenital muscular dystrophy
Gene: MSTO1Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.Created: 20 Feb 2024, 2:20 p.m. | Last Modified: 20 Feb 2024, 2:20 p.m.
Panel Version: 4.23
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, 1:03 p.m. | Last Modified: 20 Feb 2024, 1:03 p.m.
Panel Version: 4.20
Comment on phenotypes:
Congenital muscular dystrophy with Brain involvmentCreated: 15 Apr 2021, 4:36 p.m. | Last Modified: 15 Apr 2021, 4:37 p.m.
Panel Version: 2.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378;29339779) of patients with different variants in this gene who have muscular dystrophy.Created: 6 Aug 2019, 3:38 p.m. | Last Modified: 7 Aug 2019, 10:49 a.m.
Panel Version: 1.58
Comment on mode of inheritance: PMID: 28554942 reported on a case of patient who is heterozygous for a variant in this gene. While the other PMIDs reported on biallelic cases.Created: 6 Aug 2019, 3:30 p.m. | Last Modified: 6 Aug 2019, 3:30 p.m.
Panel Version: 1.53
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675
Publications
Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779; 37431817
Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779
Tag Q1_24_MOI tag was added to gene: MSTO1.
Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 to Myopathy, mitochondrial, and ataxia, OMIM:617675
Phenotypes for gene: MSTO1 were changed from Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378
Gene: msto1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28544275
Mode of inheritance for gene: MSTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were changed from to Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675
Publications for gene: MSTO1 were set to
Source NHS GMS was added to MSTO1.
gene: MSTO1 was added gene: MSTO1 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: MSTO1 was set to