UNG

uracil DNA glycosylase
OMIM: 191525, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green UNG in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with hyper IgM, type 5, MIM#608106

Green UNG in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 0.135

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber UNG in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Immunodeficiency with hyper IgM, type 5 MIM#608106
    Tags
    • treatable
    • immunological

    Green UNG in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • hyper-IgM syndrome type 5 MONDO:0011971
    • Disorders of ectonucleotide and nucleic acid metabolism