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COVID-19 research

Gene: REL

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

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Single patient but high level of evidence for pathogenicity
Created: 1 May 2020, 12:37 p.m. | Last Modified: 1 May 2020, 12:37 p.m.
Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined immunodeficiency

Created: 1 May 2020, 12:37 p.m.
Last Modified: 1 May 2020, 12:37 p.m.
Panel version: 0.171

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections
  • Immunodeficiencies affecting cellular and humoral immunity
  • c-Rel deficiency
OMIM
164910
Clinvar variants
Variants in REL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to REL. Added phenotypes Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity; c-Rel deficiency for gene: REL Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: REL was added gene: REL was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REL were set to 32086639; 31103457; 32048120 Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; Immunodeficiencies affecting cellular and humoral immunity; c-Rel deficiency