Rhabdomyolysis and Metabolic Myopathy

Gene: PUS1

Green List (high evidence)

PUS1 (pseudouridylate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pus1 has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pus1 has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 1

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