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Inborn errors of metabolism

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 5 panels

1 review

Catherine Snow (Genomics England)

Green review on relevant panel - Possible mitochondrial disorder - nuclear genes (Version 1.12)
Created: 18 Nov 2019, 3:52 p.m. | Last Modified: 18 Nov 2019, 3:52 p.m.
Panel Version: 1.406

Details

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

History Filter Activity

18 Nov 2019, Gel status: 3

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

Catherine Snow (Genomics England)

gene: MSTO1 was added gene: MSTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list 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 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675