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  2. Likely inborn error of metabolism
  3. PUS1
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Likely inborn error of metabolism

Gene: PUS1

Green List (high evidence)
PUS1 (pseudouridylate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000177192
EnsemblGeneIds (GRCh37): ENSG00000177192
OMIM: 608109, Gene2Phenotype
PUS1 is in 11 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in 5 unrelated cases.
Created: 16 Apr 2019, 4:19 p.m.
Created: 16 Apr 2019, 4:19 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.191

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple unrelated individuals reported with bi-allelic variants in this gene and mitochondrial disease.
Created: 31 Aug 2018, 6:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM#600462

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Aug 2018, 6:52 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

Three homozygous variants reported in at least 4 famiies reported
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

Publications

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
OMIM
608109
Clinvar variants
Variants in PUS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PUS1. Source London North GLH was added to PUS1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial myopathy and sideroblastic anemia 1, 600462 for gene: PUS1

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PUS1 was added gene: PUS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 27604308 Phenotypes for gene: PUS1 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))