Congenital myopathy

Gene: PUS1

Red List (low evidence)

PUS1 (pseudouridylate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 12 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial myopathy and sideroblastic anemia 1, 600462; Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Publications

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Presenting features not in keeping with inclusion criteria
Created: 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
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
OMIM
608109
Clinvar variants
Variants in PUS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

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.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for PUS1 were set to 26556812; 21686963; 25227147

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PUS1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PUS1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen