PanelApp (staging)
  1. Genes and Genomic Entities
  2. TAP1

TAP1

transporter 1, ATP binding cassette subfamily B member
OMIM: 170260, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TAP1 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bare lymphocyte syndrome, type I MIM#604571
  • Low CD8
  • absent MHC I on lymphocytes
  • vasculitis
  • pyoderma gangrenosum
  • skin lesions
  • recurrent respiratory tract infections
  • bronchiectasis

Green TAP1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

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
    • Bare lymphocyte syndrome, type I MIM#604571
    • Low CD8
    • absent MHC I on lymphocytes
    • vasculitis
    • pyoderma gangrenosum
    • skin lesions
    • recurrent respiratory tract infections
    • bronchiectasis

    Green TAP1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bare lymphocyte syndrome, type I, 604571 (3)

    Green TAP1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • MHC class I deficiency 1, MIM #604571