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  3. UNG
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BabyScreen+ newborn screening

Gene: UNG

Amber List (moderate evidence)
UNG (uracil DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000076248
EnsemblGeneIds (GRCh37): ENSG00000076248
OMIM: 191525, Gene2Phenotype
UNG is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Only 3 individuals reported in 2003: borderline gene-disease association, though supported by animal model.

Congenital onset.

Would in theory be treatable.
Created: 15 Mar 2023, 9:52 a.m. | Last Modified: 15 Mar 2023, 9:52 a.m.
Panel Version: 0.1981

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency with hyper IgM, type 5 MIM#608106

Created: 15 Mar 2023, 9:52 a.m.
Last Modified: 15 Mar 2023, 9:52 a.m.
Panel version: 0.1981

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations.
susceptibility to bacterial infections, lymphoid hyperplasia
only 3 patients reported in a single paper ?
Rx immunoglobulin replacement according to Rx genes but I can't find actual papers - i don't think there is enough evidence regarding age of onset or treatability.
Sources: Expert list
Created: 14 Mar 2023, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency with hyper IgM, type 5 MIM#608106

Publications

Created: 14 Mar 2023, 1:54 a.m.

Panel version: 0.1974

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency with hyper IgM, type 5 MIM#608106
Tags
treatable immunological
OMIM
191525
Clinvar variants
Variants in UNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ung has been classified as Amber List (Moderate Evidence).

15 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ung has been classified as Amber List (Moderate Evidence).

15 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: UNG. Tag immunological tag was added to gene: UNG.

14 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: UNG was added gene: UNG was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNG were set to PubMed: 12958596, PMID: 15967827, PMID: 19202054, PMID: 16860315 Phenotypes for gene: UNG were set to Immunodeficiency with hyper IgM, type 5 MIM#608106 Review for gene: UNG was set to RED