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STRs in panel
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COVID-19 research

Gene: UNG

Green List (high evidence)

UNG (uracil DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000076248
EnsemblGeneIds (GRCh37): ENSG00000076248
OMIM: 191525, Gene2Phenotype
UNG is in 3 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): UNG .PanelApp HGNC gene symbol check: UNG . IUIS Disease: UNG deficiency . IUIS Inheritance: AR , .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Enlarged lymph nodes and germinal centers. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 1:02 p.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Amber. The gene is present in the external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 10:26 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: UNG, PanelApp HGNC gene symbol check: UNG, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Class switch recombination defects (CSR) / HIGM syndromes / CSR defects and Hyper IgM (HIGM) syndromes
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: UNG, GRID_Gene_Symbol: UNG, GRID_Transcript_ENS_Community submitted: ENST00000242576, GRID_Transcript_RefSeq: NM_080911.2, GRID_Transcript_ENS_used_on_Production: ENST00000242576
Created: 17 Apr 2018, 12:12 p.m.

Olivia Niblock (Genomics England Curator)

Comment on list classification: Unable to access full literature paper at present, however abstract details three individuals with variants in this gene with Hyper-IgM syndrome (12958596)
Created: 15 Aug 2017, 1:07 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

OMIM:191525
Created: 6 Jan 2017, 3:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyper IgM syndrome with lymphoid hyperplasia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hyper IgM syndrome with lymphoid hyperplasia
  • Immunodeficiency with hyper IgM, type 5, 608106
  • Enlarged lymph nodes and germinal centers
  • Predominantly Antibody Deficiencies
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Immunodeficiency with hyper IgM, type 5
OMIM
191525
Clinvar variants
Variants in UNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: UNG was added gene: UNG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNG were set to 12958596 Phenotypes for gene: UNG were set to Hyper IgM syndrome with lymphoid hyperplasia; Immunodeficiency with hyper IgM, type 5, 608106; Enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies; CSR defects and Hyper IgM (HIGM) syndromes; Immunodeficiency with hyper IgM, type 5