Congenital muscular dystrophy
Gene: MSTO1EnsemblGeneIds (GRCh38): ENSG00000125459
EnsemblGeneIds (GRCh37): ENSG00000125459
OMIM: 617619, Gene2Phenotype
MSTO1 is in 9 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 11:36 a.m. | Last Modified: 6 Dec 2024, 11:36 a.m.
Panel Version: 5.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment 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
Ivone Leong (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London South GLH
- Phenotypes
-
- Myopathy, mitochondrial, and ataxia, OMIM:617675
- OMIM
- 617619
- Clinvar variants
- Variants in MSTO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_24_MOI was removed from gene: MSTO1.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779; 37431817
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_MOI tag was added to gene: MSTO1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: msto1 has been classified as Green List (High Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MSTO1 were set to 28544275
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: MSTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: MSTO1 were changed from to Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: MSTO1 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MSTO1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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