Primary immunodeficiencyGene: RELA
Comment on list classification: Promoted from Red to Amber based on expert review. As there are only 2 cases and because the phenotype are slightly different, this gene will be rated Amber until more cases emerge.
Created: 21 Apr 2020, 9:32 a.m. | Last Modified: 21 Apr 2020, 9:32 a.m.
Panel Version: 2.107
Two families reported, somewhat different phenotypes.
Created: 11 Apr 2020, 8:28 a.m. | Last Modified: 11 Apr 2020, 8:28 a.m.
Panel Version: 2.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mucocutaneous ulceration, chronic, MIM# 618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias
Gene: rela has been classified as Amber List (Moderate Evidence).
Publications for gene RELA were updated from 32048120; 32086639 to 28600438; 32086639; 32048120; 29305315
gene: RELA was added gene: RELA was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RELA were set to 32048120; 32086639 Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, 618287; RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Immunodeficiencies affecting cellular and humoral immunity