PanelApp
  1. Genes and Genomic Entities
  2. TAP2

TAP2

transporter 2, ATP binding cassette subfamily B member
OMIM: 170261, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TAP2 in Vasculitis


Level 2: Immunological disorders
Version 0.93

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571
  • Low CD8
  • absent MHC I on lymphocytes
  • Vasculitis
  • pyoderma gangrenosum
  • recurrent bacterial/viral respiratory infections
  • bronchiectasis

Green TAP2 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MHC class I deficiency 2, MIM# 620813
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571
  • Low CD8
  • absent MHC I on lymphocytes
  • Vasculitis
  • pyoderma gangrenosum
  • recurrent bacterial/viral respiratory infections
  • bronchiectasis

Green TAP2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • MHC class I deficiency 2, MIM# 620813
    • Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571
    • Low CD8
    • absent MHC I on lymphocytes
    • Vasculitis
    • pyoderma gangrenosum
    • recurrent bacterial/viral respiratory infections
    • bronchiectasis