USB1:Ensemblv115

U6 snRNA biogenesis phosphodiesterase 1
OMIM: 613276, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green USB1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

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

Green USB1 in Phagocyte Defects


Level 2: Immunological disorders
Version 2.0

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

Green USB1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Green USB1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Poikiloderma with neutropenia MIM#604173