Congenital muscular dystrophy and 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
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462
- OMIM
- 608109
- Clinvar variants
- Variants in PUS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Rare anaemia
- Possible mitochondrial disorder - nuclear genes
- Cytopenias and congenital anaemias
- Congenital myopathy
- Undiagnosed metabolic disorders
- DDG2P
- Arthrogryposis
- Mitochondrial disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: PUS1 was added gene: PUS1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 26556812; 21686963; 25227147 Phenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 Penetrance for gene: PUS1 were set to Complete