TAPBP:Ensemblv115

TAP binding protein
OMIM: 601962, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber TAPBP in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Amber
Phenotypes
  • Bare lymphocyte syndrome, type I, MIM# 604571
  • MHC class I deficiency 3, MIM# 620814
Tags
  • SV/CNV