This Panel is marked as Internal
Anaemias and red cell disorders
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, Lactic Acidosis, and Sideroblastic Anemia
- Mitochondrialmyopathyandsideroblasticanemia1,600462
- 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
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PUS1 was created by ellenmcdonagh
22 Jul 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)PUS1 was added to Anaemias and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen