Congenital myopathy
Gene: PUS1EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 11 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Presenting features not in keeping with inclusion criteriaCreated: 3 Feb 2017, 11:11 a.m.
Comment on list classification: Of the 4 individuals in the PMIDs referenced; only one had onset of hypotonia in infancy. The others at 6y and two in adulthood. Main presenting features are sideroblastic anaemia and cognitive impairment therefore not considered likely to present requiring congenital myopathy panel.Created: 3 Feb 2017, 11:10 a.m.
Relatively small numbers of proven cases (3 families with mutations), one of which (PMID 25227147) had adult onset of myopathy.Created: 30 Jan 2017, 11:17 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 Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM: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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462; Myopathy, Lactic Acidosis, and Sideroblastic Anemia to Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for PUS1 were set to 26556812; 21686963; 25227147
Added New Source
GEL ()PUS1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()PUS1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen