PanelApp (test)
  1. Genes and Genomic Entities
  2. TAP2:Ensemblv115

TAP2:Ensemblv115

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TAP2 in Vasculitis


Level 2: Immunological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
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 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
  • 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