Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: UNG

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

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

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.

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.

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

• 12958596