Autoinflammatory disorders
Gene: RELA

RELA (RELA proto-oncogene, NF-kB subunit)
EnsemblGeneIds (GRCh38): ENSG00000173039
EnsemblGeneIds (GRCh37): ENSG00000173039
OMIM: 164014, Gene2Phenotype
RELA is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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: 10 Dec 2025, 2:17 p.m. | Last Modified: 10 Dec 2025, 2:17 p.m.

Panel Version: 2.34

Created: 10 Dec 2025, 2:17 p.m.
Last Modified: 10 Dec 2025, 2:17 p.m.
Panel version: 2.34

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

At least 7 unrelated cases identified in literature with monoallelic RELA variants and Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287 which is characterised predominantly by intermittent fevers and chronic mucocutaneous ulceration although clinical presentation can be variable.
Created: 16 Jun 2025, 1:09 p.m. | Last Modified: 16 Jun 2025, 1:09 p.m.

Panel Version: 2.25

Created: 16 Jun 2025, 1:09 p.m.
Last Modified: 16 Jun 2025, 1:09 p.m.
Panel version: 2.25

Dorota Rowczenio (Royal Free London NHS Trust)

Green List (high evidence)

Sources: Expert list, Expert Review, Literature, Research
Created: 4 Jun 2025, 4:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammatory disease, familial, behcet-like 3

Publications

PMID: 36926348
PMID: 32969189
PMID: 35412596
PMID: 28600438

Created: 4 Jun 2025, 4:28 p.m.

Panel version: 2.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

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

10 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: RELA. Tag Q2_25_ NHS_review was removed from gene: RELA.

10 Dec 2025, Gel status: 3

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)

16 Jun 2025, Gel status: 2