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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: REL

Red List (low evidence)
REL (REL proto-oncogene, NF-kB subunit)
EnsemblGeneIds (GRCh38): ENSG00000162924
EnsemblGeneIds (GRCh37): ENSG00000162924
OMIM: 164910, Gene2Phenotype
REL is in 3 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • B cells: low, mostly naive, few switched memory B cells, impaired proliferation
  • Combined immunodeficiency
  • Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms
  • T cells: normal, decreased memory CD4, poor proliferation
  • Defective innate immunity
OMIM
164910
Clinvar variants
Variants in REL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: REL was added gene: REL was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Red,Expert list Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REL were set to 31103457 Phenotypes for gene: REL were set to B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Combined immunodeficiency; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; T cells: normal, decreased memory CD4, poor proliferation; Defective innate immunity