Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RELBThe 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
Single kindred with 3 individuals, however strong biological case that loss of function of RELB is causativeCreated: 11 Jun 2018, 12:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 ImmunodeficiencyCreated: 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 panelCreated: 13 Jun 2018, 10 a.m.
Comment on phenotypes: added OMIM MIMidCreated: 13 Jun 2018, 9:54 a.m.
Comment on publications: changed doi into PMIDCreated: 26 Apr 2018, 9:20 a.m.
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
Source Other was added to RELB. Publications for gene RELB were updated from 32048120; 26385063; 32086639 to 26385063; 32086639; 32048120
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
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.
Phenotypes for gene RELB were set to ?Immunodeficiency 53, 617585, Recurrent infections, Immunodeficiencies affecting cellular and humoral immunity
IUIS Classification February 2018 was added to RELB. Panel: Primary immunodeficiency disorders
Gene: relb has been classified as Red List (Low Evidence).
Phenotypes for gene: RELB were set to ?Immunodeficiency 53, 617585
Publications for RELB were set to 26385063
RELB was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, Combined B and T cell defect v1.12
RELB was created by Louise Daugherty