Arthrogryposis
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
Alice Gardham (Genomics England)
Comment on list classification: No association with arthrogryposisCreated: 4 Jan 2017, 1:25 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Mitochondrial myopathy and sideroblastic anemia 1, 600462
- Myopathy, Lactic Acidosis, and Sideroblastic Anemia
- OMIM
- 608109
- Clinvar variants
- Variants in PUS1
- Penetrance
- Complete
- 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
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)PUS1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PUS1 was created by ellenmcdonagh