Growth failure
Gene: MSTO1EnsemblGeneIds (GRCh38): ENSG00000125459
EnsemblGeneIds (GRCh37): ENSG00000125459
OMIM: 617619, Gene2Phenotype
MSTO1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Growth failure is a feature of the AR condition associated with this gene.Created: 1 Sep 2021, 4:15 a.m. | Last Modified: 1 Sep 2021, 4:15 a.m.
Panel Version: 0.380
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial, and ataxia, MIM# 617675
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Myopathy, mitochondrial, and ataxia, OMIM:617675
- OMIM
- 617619
- Clinvar variants
- Variants in MSTO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: msto1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: msto1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MSTO1 was added gene: MSTO1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 29339779; 28554942; 31604776; 28544275; 31130378 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675