COVID-19 research
Gene: RELB
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 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)
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