Mitochondrial disorders
Gene: PUS1Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in 5 unrelated cases.Created: 16 Apr 2019, 4:19 p.m.
Multiple unrelated individuals reported with bi-allelic variants in this gene and mitochondrial disease.Created: 31 Aug 2018, 6:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM#600462
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: pus1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to
Victorian Clinical Genetics Services was added to PUS1. Panel: Mitochondrial disorders
PUS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PUS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PUS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen