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STRs in panel
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Primary immunodeficiency

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Created: 12 Apr 2020, 4:40 a.m. | Last Modified: 12 Apr 2020, 4:40 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
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

Publications

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

Details

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

History Filter Activity

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene REL were updated from 32048120; 32086639 to 32086639; 31103457; 32048120

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: REL was added gene: REL was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity