USB1

U6 snRNA biogenesis phosphodiesterase 1
OMIM: 613276, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green USB1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Poikiloderma with neutropaenia, MIM# 604173
  • MONDO:0011405

Green USB1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Poikiloderma with neutropaenia, MIM# 604173
  • MONDO:0011405

Green USB1 in Phagocyte Defects


Level 2: Immunological disorders
Version 1.29

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Poikiloderma with neutropaenia, MIM# 604173
    • MONDO:0011405

    Green USB1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Poikiloderma with neutropenia, 604173 (3)

    Green USB1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Poikiloderma with neutropenia, 604173 (3)