Congenital muscular dystrophy

Gene: MSTO1

Green List (high evidence)

MSTO1 (misato 1, mitochondrial distribution and morphology regulator)
EnsemblGeneIds (GRCh38): ENSG00000125459
EnsemblGeneIds (GRCh37): ENSG00000125459
OMIM: 617619, Gene2Phenotype
MSTO1 is in 6 panels

3 reviews

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)

I don't know

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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital muscular dystrophy with Brain involvment
  • Myopathy, mitochondrial, and ataxia, 617675
OMIM
617619
Clinvar variants
Variants in MSTO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378

6 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: msto1 has been classified as Green List (High Evidence).

6 Aug 2019, Gel status: 1

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

6 Aug 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MSTO1 were set to 28544275

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MSTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

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

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MSTO1 were set to

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MSTO1.

29 Apr 2019, Gel status: 1

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