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COVID-19 research

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 52 panels

4 reviews

Sophie Hambleton (Newcastle University)

I don't know

Agree amber rating
Created: 23 Oct 2019, 7:11 a.m. | Last Modified: 23 Oct 2019, 7:11 a.m.
Panel Version: 1.132

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

agree with all the Amber genes
Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115

Tracy Briggs (Manchester Genomic Medicine Centre)

I don't know

The amber genes are covered on our targeted exome, we feel that these should be covered in the testing
Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114

Louise Daugherty (Genomics England Curator)

I don't know

Cowden (macrocephaly, variable GDD, skin features, malignancy risk) - some patients reported to have primary immunodef / hypogammaglob. / lymphopaenia / T&B cell abn. / susceptibility to infections). Green association - relevant phenotype?
Created: 26 Sep 2019, 3:58 p.m. | Last Modified: 26 Sep 2019, 3:58 p.m.
Panel Version: 1.130
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Comment on list classification: Changed from Red to Amber. As discussed with the GMS Immunology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert
Created: 15 Aug 2019, 3:33 p.m. | Last Modified: 16 Aug 2019, 9:07 a.m.
Panel Version: 1.51
Comment on publications: publication added to support upgrading gene to Amber- suggested by Sophie Hambleton in the GMS Immunological Specialist Test Group webex call 28th March 2019
Created: 29 Mar 2019, 12:56 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PTEN .PanelApp HGNC gene symbol check: PTEN . IUIS Disease: PTEN Deficiency . IUIS Inheritance: AD .T cells: Normal, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Lymphoproliferation, Autoimmunity. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 6 Jul 2018, 12:33 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Recurrent infections, Lymphoproliferation, Autoimmunity
  • Lymphoproliferation, Autoimmunity
  • developmental delay
  • Predominantly Antibody Deficiencies
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to PTEN. Added phenotypes Recurrent infections, Lymphoproliferation, Autoimmunity; Lymphoproliferation, Autoimmunity; developmental delay; Predominantly Antibody Deficiencies for gene: PTEN Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PTEN was added gene: PTEN was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTEN were set to 32086639; 27426521; 32048120 Phenotypes for gene: PTEN were set to Recurrent infections, Lymphoproliferation, Autoimmunity; Lymphoproliferation, Autoimmunity; developmental delay; Predominantly Antibody Deficiencies