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Primary immunodeficiency

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Immunodeficiency with hyper IgM, type 5
  • Hyper IgM syndrome with lymphoid hyperplasia
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Immunodeficiency with hyper IgM, type 5, 608106
  • Enlarged lymph nodes and germinal centers
  • Predominantly Antibody Deficiencies
OMIM
191525
Clinvar variants
Variants in UNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UNG.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to UNG.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to UNG.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene UNG were set to Immunodeficiency with hyper IgM, type 5, Hyper IgM syndrome with lymphoid hyperplasia, CSR defects and Hyper IgM (HIGM) syndromes, Immunodeficiency with hyper IgM, type 5, 608106, Enlarged lymph nodes and germinal centers, Predominantly Antibody Deficiencies

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to UNG. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to UNG. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for UNG were set to Immunodeficiency with hyper IgM, type 5; Hyper IgM syndrome with lymphoid hyperplasia; CSR defects and Hyper IgM (HIGM) syndromes; Immunodeficiency with hyper IgM, type 5, 608106

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to UNG. Panel: Primary immunodeficiency disorders Phenotypes for gene UNG were set to Immunodeficiency with hyper IgM, type 5, Hyper IgM syndrome with lymphoid hyperplasia, CSR defects and Hyper IgM (HIGM) syndromes

17 Apr 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene UNG were set to Immunodeficiency with hyper IgM, type 5, Hyper IgM syndrome with lymphoid hyperplasia

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to UNG. Panel: Primary immunodeficiency disorders Phenotypes for gene UNG were set to Immunodeficiency with hyper IgM, type 5, Hyper IgM syndrome with lymphoid hyperplasia

6 Apr 2018, Gel status: 2

Clear Sources

Louise Daugherty (Genomics England Curator)

UNG Source: GOSH PID 20171206 was removed from gene: UNG

6 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to UNG. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171206 was added to UNG. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

UNG was added to Primary immunodeficiency disorders panel. Sources: Expert Review Amber, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 2

Created

Louise Daugherty (Genomics England Curator)

UNG was created by Louise Daugherty