This Panel is marked as Internal
Lactic acidosis
Gene: PUS1
PUS1 (pseudouridylate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review recommended that the mitochondrial panel be applied.Created: 8 Feb 2016, 9:40 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, Lactic Acidosis, and Sideroblastic Anemia
- OMIM
- 608109
- Clinvar variants
- Variants in PUS1
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Intellectual disability
- Undiagnosed metabolic disorders
History Filter Activity
8 Feb 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PUS1 was added to Lactic acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services