PanelApp
  1. Genes and Genomic Entities
  2. TAPBP

TAPBP

TAP binding protein
OMIM: 601962, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TAPBP in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bare lymphocyte syndrome, type I, MIM# 604571
  • MHC class I deficiency 3, MIM# 620814

Amber TAPBP in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.115

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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