Genomics England
GMS Panels
Panels
Genes and Entities

TAP2

transporter 2, ATP binding cassette subfamily B member
OMIM: 170261
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
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