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Primary immunodeficiency

Gene: RELB

Red List (low evidence)

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

4 reviews

Eleanor Williams (Genomics England Curator)

The following PubMed IDs were added to gene RELB (OMIM gene MIM#604758): 26385063. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

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
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Expert Review Red
  • Combined B and T cell defect v1.12
Phenotypes
  • Recurrent infections
  • Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity
  • Immunodeficiencies affecting cellular and humoral immunity
  • ?Immunodeficiency 53, 617585
OMIM
604758
Clinvar variants
Variants in RELB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 1

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to RELB. Publications for gene RELB were updated from 32048120; 26385063; 32086639 to 26385063; 32086639; 32048120

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to RELB. Added phenotypes Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity for gene: RELB Publications for gene RELB were updated from 26385063 to 32048120; 26385063; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene RELB were set to ?Immunodeficiency 53, 617585, Recurrent infections, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to RELB. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: relb has been classified as Red List (Low Evidence).

13 Jun 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RELB were set to ?Immunodeficiency 53, 617585

26 Apr 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RELB were set to 26385063

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RELB was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, Combined B and T cell defect v1.12

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

RELB was created by Louise Daugherty