Rhabdomyolysis and Metabolic Myopathy
Gene: PUS1EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported with a multi-system mitochondrial disorder.Created: 14 Sep 2020, 7:51 a.m. | Last Modified: 14 Sep 2020, 7:51 a.m.
Panel Version: 0.4413
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Victorian Clinical Genetics Services
- Phenotypes
-
- myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553
- OMIM
- 608109
- Clinvar variants
- Variants in PUS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pus1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pus1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PUS1 was added gene: PUS1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 25227147; 17056637; 15108122; 32287105; 31641589; 28832011 Phenotypes for gene: PUS1 were set to myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553