Nucleotide metabolism disorders

Gene: UNG

Green List (high evidence)

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

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Imai et al. (2003) studied 3 unrelated patients from France and Japan with a phenotype resembling HIGM2, including susceptibility to bacterial infections, lymphoid hyperplasia, increased serum IgM concentrations, and profoundly decreased serum IgG and IgA concentrations, but with no mutations in the AICDA gene (605257). As with AICDA deficiency, this form of HIGM, designated HIGM5, was characterized by defective cleavage of a targeted switch region. Patient B cells were incapable of CSR after activation with anti-CD40 (109535) or with soluble CD40LG (300386) plus IL4 (147780). The phenotype was similar to that observed in Ung -/- mice, although the CSR defect was more severe. All patients had normal T-cell numbers and functions and were successfully treated with intravenous immunoglobulin.
Created: 21 Mar 2022, 4:44 a.m. | Last Modified: 21 Mar 2022, 4:44 a.m.
Panel Version: 0.11665

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency with hyper IgM, type 5, MIM#608106

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hyper-IgM syndrome type 5 MONDO:0011971
  • Disorders of ectonucleotide and nucleic acid metabolism
OMIM
191525
Clinvar variants
Variants in UNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UNG was added gene: UNG was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNG were set to 12958596; 23585684; 32135276 Phenotypes for gene: UNG were set to hyper-IgM syndrome type 5 MONDO:0011971; Disorders of ectonucleotide and nucleic acid metabolism