Muscular dystrophy and myopathy_Paediatric
Gene: MSTO1
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
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
>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 ReviewCreated: 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
Onset usually in early childhood.
Sources: Expert listCreated: 16 Apr 2020, 11:48 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia MIM#617675
Gene: msto1 has been classified as Green List (High Evidence).
Gene: msto1 has been classified as Green List (High Evidence).
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