Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RELAEnsemblGeneIds (GRCh38): ENSG00000173039
EnsemblGeneIds (GRCh37): ENSG00000173039
OMIM: 164014, Gene2Phenotype
RELA is in 4 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.
Panel Version: 5.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
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
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- IUIS Classification December 2019
- Phenotypes
-
- Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
- OMIM
- 164014
- Clinvar variants
- Variants in RELA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: RELA. Tag Q4_23_NHS_review was removed from gene: RELA.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to RELA. Source Expert Review Green was added to RELA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: rela has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: RELA. Tag Q4_23_NHS_review tag was added to gene: RELA.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: RELA were set to 28600438; 32086639; 32048120; 29305315
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: RELA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: RELA were changed from Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287 to Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rela has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene RELA were updated from 32048120; 32086639 to 28600438; 32086639; 32048120; 29305315
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)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