Likely inborn error of metabolism - targeted testing not possible
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
Three homozygous variants reported in at least 4 famiies reportedCreated: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Publications
Source NHS GMS was added to PUS1. Source London North GLH was added to PUS1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial myopathy and sideroblastic anemia 1, 600462 for gene: PUS1
gene: PUS1 was added gene: PUS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 27604308 Phenotypes for gene: PUS1 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))