Possible mitochondrial disorder - nuclear genes
Gene: PUS1EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
Zornitza Stark (Australian Genomics)
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
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
- OMIM
- 608109
- Clinvar variants
- Variants in PUS1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Congenital myopathy
- Rare anaemia
- Arthrogryposis
- Undiagnosed metabolic disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PUS1 was added gene: PUS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462