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  3. REL
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: REL

Green List (high evidence)
REL (REL proto-oncogene, NF-kB subunit)
EnsemblGeneIds (GRCh38): ENSG00000162924
EnsemblGeneIds (GRCh37): ENSG00000162924
OMIM: 164910, Gene2Phenotype
REL is in 3 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal 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
BIALLELIC, autosomal or pseudoautosomal

Created: 3 May 2024, 8:36 p.m.
Last Modified: 3 May 2024, 8:36 p.m.
Panel version: 5.3

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (two unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.
Created: 1 Nov 2023, 10:25 p.m. | Last Modified: 1 Nov 2023, 10:25 p.m.
Panel Version: 4.94
Two unrelated cases were reported with two different homozygous splice site variants (c.535+1G>A & c.395-1G>A) and extensive functional evidence is available for c.395-1G>A variant.

This gene has been associated with relevant phenotypes in OMIM (MIM #619652), but not in Gene2Phenotype.
Created: 1 Nov 2023, 10:22 p.m. | Last Modified: 1 Nov 2023, 10:22 p.m.
Panel Version: 4.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 92, OMIM:619652

Publications

Created: 1 Nov 2023, 10:22 p.m.
Last Modified: 1 Nov 2023, 10:22 p.m.
Panel version: 4.91

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 34623332 - second patient reported with a homozygous splice site variant (c.395-1G>A)
Created: 12 Oct 2023, 11:41 a.m. | Last Modified: 12 Oct 2023, 11:41 a.m.
Panel Version: 4.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 92

Publications

Created: 12 Oct 2023, 11:41 a.m.
Last Modified: 12 Oct 2023, 11:41 a.m.
Panel version: 4.40

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Created: 12 Apr 2020, 4:40 a.m. | Last Modified: 12 Apr 2020, 4:40 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity

Publications

Created: 12 Apr 2020, 4:40 a.m.
Last Modified: 12 Apr 2020, 4:40 a.m.
Panel version: 2.51

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: 2.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • IUIS Classification December 2019
Phenotypes
  • Immunodeficiency 92, OMIM:619652
OMIM
164910
Clinvar variants
Variants in REL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: REL. Tag Q4_23_NHS_review was removed from gene: REL.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to REL. Source Expert Review Green was added to REL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: rel has been classified as Amber List (Moderate Evidence).

1 Nov 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: REL were changed from Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 92, OMIM:619652

1 Nov 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: REL were set to 32086639; 31103457; 32048120

1 Nov 2023, Gel status: 1

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: REL. Tag Q4_23_NHS_review tag was added to gene: REL.

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene REL were updated from 32048120; 32086639 to 32086639; 31103457; 32048120

28 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: REL was added gene: REL was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REL were set to 32048120; 32086639 Phenotypes for gene: REL were set to Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections; c-Rel deficiency; Immunodeficiencies affecting cellular and humoral immunity