Cytopenias and congenital anaemias
Gene: PUS1EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 11 panels
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence of causation for anaemiaCreated: 28 Feb 2017, 1:52 p.m.
4 separate families with biallelic mutations described in above PMIDs. Presentation with sideroblastic anaemia, often associated with growth failure and in some, myopathy. Considered enough evidence for inclusion.Created: 28 Feb 2017, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 1 600462
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
- OMIM
- 608109
- Clinvar variants
- Variants in PUS1
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for PUS1 were set to Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
Set publications
Helen Brittain (Genomics England Curator)Publications for PUS1 were set to 15108122; 17056637; 25227147
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Louise Daugherty (Genomics England Curator)PUS1 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)PUS1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen