TAPBP

TAP binding protein
OMIM: 601962, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TAPBP in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GOSH PID v.8.0
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Bare lymphocyte syndrome, type I 604571
  • Vasculitis, pyoderma gangrenosum
  • HLA class I deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • Vasculitis,pyoderma gangrenosum
Amber TAPBP in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Vasculitis, pyoderma gangrenosum
  • Bare lymphocyte syndrome, type I 604571
  • HLA class I deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • Vasculitis,pyoderma gangrenosum
Tags
  • deletions
Green TAPBP in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bare lymphocyte syndrome, type I, 604571