Rare anaemia

Gene: PUS1

Green List (high evidence)

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

5 reviews

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 4:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
600462 Myopathy, lactic acidosis, and sideroblastic anemia 1

Publications

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

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 3:27 p.m. | Last Modified: 22 Jul 2019, 3:27 p.m.
Panel Version: 0.45
Discrepant reviews, to be discussed at July workshop to agree rating.
Created: 22 Jul 2019, 3:27 p.m. | Last Modified: 22 Jul 2019, 3:27 p.m.
Panel Version: 0.44
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; PMID(s): none submitted
Created: 18 Feb 2019, 2:28 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; PMID(s): none submitted
Created: 14 Feb 2019, 4:05 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; PMID(s): 15108122; 15772074
Created: 8 Feb 2019, 3:49 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; PMID(s): 15108122;17056637;25227147
Created: 6 Feb 2019, 12:14 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 12:13 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
  • 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia
OMIM
608109
Clinvar variants
Variants in PUS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pus1 has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 for gene: PUS1

18 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to PUS1.

14 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia for gene: PUS1

14 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PUS1.

8 Feb 2019, Gel status: 2

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1 for gene: PUS1 Publications for gene PUS1 were changed from 25227147; 17056637; 15108122 to 15772074; 15108122

8 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to PUS1.

6 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PUS1.

6 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to PUS1. Mode of inheritance for gene PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 for gene: PUS1 Publications for gene PUS1 were changed from to 25227147; 17056637; 15108122 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PUS1 was added gene: PUS1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PUS1 was set to