Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: UNG
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 IgMCreated: 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 associationCreated: 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) syndromesCreated: 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: ENST00000242576Created: 17 Apr 2018, 12:12 p.m.
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.
OMIM:191525Created: 6 Jan 2017, 3:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper IgM syndrome with lymphoid hyperplasia
Publications
Source NHS GMS was added to UNG.
Source North West GLH was added to UNG.
Source London North GLH was added to UNG.
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.
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
IUIS Classification February 2018 was added to UNG. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to UNG. Panel: Primary immunodeficiency disorders
Gene: ung has been classified as Green List (High Evidence).
Gene: ung has been classified as Green List (High Evidence).
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
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
Phenotypes for gene UNG were set to Immunodeficiency with hyper IgM, type 5, Hyper IgM syndrome with lymphoid hyperplasia
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
UNG Source: GOSH PID 20171206 was removed from gene: UNG
GOSH PID v.8.0 was added to UNG. Panel: Primary immunodeficiency disorders
GOSH PID 20171206 was added to UNG. Panel: Primary immunodeficiency disorders
UNG was added to Primary immunodeficiency disorders panel. Sources: Expert Review Amber, A- or hypo-gammaglobulinaemia v1.25
UNG was created by Louise Daugherty