PanelApp (test)
  1. Genes and Genomic Entities
  2. TAP1:Ensemblv115

TAP1:Ensemblv115

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TAP1 in Combined Immunodeficiency


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
  • 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 1.0

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

Green TAP1 in Prepair 1000+


Level 2: Screening
Version 3.0

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