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 COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Vasculitis, pyoderma gangrenosum
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571
  • HLA class I deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • Wegener-like granulomatosis
Green TAP2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • 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, due to TAP2 deficiency 604571
  • HLA class I deficiency
  • Wegener-like granulomatosis
  • Vasculitis, pyoderma gangrenosum
  • Immunodeficiencies affecting cellular and humoral immunity
Green TAP2 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, due to TAP2 deficiency, 604571