Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RELA
Comment on list classification: As reviewed by Hannah Knight, there are at least eight unrelated cases identified with monoallelic RELA variants and reported with chronic mucocutaneous ulceration (MIM #618287). Hence, this gene can be promoted to green rating in the next GMS review.Created: 24 Oct 2023, 2:56 p.m. | Last Modified: 24 Oct 2023, 2:56 p.m.
Panel Version: 4.56
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
PMID: 28600438 - four members of same family with splice variant (c.559+1G>A)
PMID: 29305315 - one patient with de novo variant (p.Arg246*)
PMID: 32969189 - five members of a family with frameshift variant (p.His487ThrfsTer7)
PMID: 35412596 - large family with frameshift variant (p.Tyr349LeufsTer13)
PMID: 36926348 - four additional families reported, all with null variantsCreated: 10 Oct 2023, 3:12 p.m. | Last Modified: 10 Oct 2023, 3:12 p.m.
Panel Version: 4.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammatory disease, familial, Behcet-like-3
Publications
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
Phenotypes
Mucocutaneous ulceration, chronic, MIM# 618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias
Publications
Gene: rela has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: RELA. Tag Q4_23_NHS_review tag was added to gene: RELA.
Publications for gene: RELA were set to 28600438; 32086639; 32048120; 29305315
Mode of inheritance for gene: RELA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RELA were changed from Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287 to Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
Phenotypes for gene: RELA were changed from Mucocutaneous ulceration, chronic, 618287; RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Immunodeficiencies affecting cellular and humoral immunity to Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
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