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COVID-19 research

Gene: RELB

Green List (high evidence)

RELB (RELB proto-oncogene, NF-kB subunit)
EnsemblGeneIds (GRCh38): ENSG00000104856
EnsemblGeneIds (GRCh37): ENSG00000104856
OMIM: 604758, Gene2Phenotype
RELB is in 2 panels

3 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Single kindred with 3 individuals, however strong biological case that loss of function of RELB is causative
Created: 11 Jun 2018, 12:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RELB .PanelApp HGNC gene symbol check: RELB . IUIS Disease: RelB deficiency . IUIS Inheritance: AR .T cells: Decreased or normal, response to PHA may be decreased, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 2 Jul 2018, 10:35 a.m.
External expert review notes Red status, although there is strong biological evidence there is not enough unrelated cases (only one family reported Sharfe N et al, in 2015) so I have kept this gene Red on this panel
Created: 13 Jun 2018, 10 a.m.
Comment on phenotypes: added OMIM MIMid
Created: 13 Jun 2018, 9:54 a.m.
Comment on publications: changed doi into PMID
Created: 26 Apr 2018, 9:20 a.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least one variant reported in 3 male patients from a consanguineous family of Irish descent with immunodeficiency-53.
Created: 5 Sep 2017, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Immunodeficiency 53

Publications

  • https://doi.org/10.14785/lpsn-2015-0005

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity
  • Recurrent infections
  • ?Immunodeficiency 53, 617585
OMIM
604758
Clinvar variants
Variants in RELB
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 RELB. Added phenotypes Immunodeficiencies affecting cellular and humoral immunity; Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity; Recurrent infections; ?Immunodeficiency 53, 617585 for gene: RELB 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: RELB was added gene: RELB was added to Viral susceptibility. Sources: Combined B and T cell defect v1.12,Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RELB were set to 32086639; 32048120; 26385063 Phenotypes for gene: RELB were set to Immunodeficiencies affecting cellular and humoral immunity; Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity; Recurrent infections; ?Immunodeficiency 53, 617585