Muscular dystrophy and myopathy_Paediatric

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 10 panels

4 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established.
Created: 17 Jan 2022, 4:09 a.m. | Last Modified: 17 Jan 2022, 4:09 a.m.
Panel Version: 0.10640

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Green for bi-allelic disease.
Created: 24 Jun 2020, 9:20 a.m. | Last Modified: 24 Jun 2020, 9:20 a.m.
Panel Version: 0.42

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families reported. Early onset, elevated CK levels and myopathic patterns on EMG reported in almost all patients. Primarily a recessive disorder. Limited evidence supporting AD inheritance, which was reported in one family where CK levels were normal and age of onset was later.

PMID: 31604776: One patient reported. Provides review of previously published MSTO1 families.
Sources: Expert Review
Created: 24 Jun 2020, 3:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia (MIM#617675)

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset usually in early childhood.
Sources: Expert list
Created: 16 Apr 2020, 11:48 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial, and ataxia MIM#617675

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, mitochondrial, and ataxia (MIM#617675)
OMIM
617619
Clinvar variants
Variants in MSTO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: MSTO1 was added gene: MSTO1 was added to Muscular dystrophy. Sources: Expert Review 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 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia (MIM#617675) Review for gene: MSTO1 was set to GREEN