PanelApp (stage)
  1. Genes and Genomic Entities
  2. RFX5

RFX5

regulatory factor X5
OMIM: 601863, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RFX5 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group C MIM# 209920
  • Bare lymphocyte syndrome, type II, complementation group E MIM# 209920

Green RFX5 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

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
    • Bare lymphocyte syndrome, type II, complementation group C MIM# 209920
    • Bare lymphocyte syndrome, type II, complementation group E MIM# 209920

    Green RFX5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Bare lymphocyte syndrome, type II, complementation group C MIM# 209920
    • Bare lymphocyte syndrome, type II, complementation group E MIM# 209920
    Tags
    • treatable
    • immunological