This Panel is marked as Internal
Congenital anaemias
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
-
- Intellectual disability
- Rare anaemia
- Likely inborn error of metabolism
- Arthrogryposis
- Congenital myopathy
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- DDG2P
- Dystonia, chorea or related movement disorder, childhood onset
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)PUS1 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)PUS1 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
28 Apr 2015, Gel status: 2
Added New Source
GEL ()PUS1 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()PUS1 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services