PanelApp (test)
  1. Genes and Genomic Entities
  2. REL

REL

REL proto-oncogene, NF-kB subunit
OMIM: 164910, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber REL in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 92, MIM# 619652
  • Combined immunodeficiency
  • T cells: normal, decreased memory CD4, poor proliferation
  • B cells: low, mostly naive, few switched memory B cells, impaired proliferation
  • Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms
  • Defective innate immunity

Amber REL in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 92, MIM# 619652
  • Combined immunodeficiency
  • T cells: normal, decreased memory CD4, poor proliferation
  • B cells: low, mostly naive, few switched memory B cells, impaired proliferation
  • Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms
  • Defective innate immunity