Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: REL
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
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
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
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Gene: rel has been classified as Amber List (Moderate Evidence).
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
Publications for gene: REL were set to 32086639; 31103457; 32048120
Tag Q4_23_promote_green tag was added to gene: REL. Tag Q4_23_NHS_review tag was added to gene: REL.
Publications for gene REL were updated from 32048120; 32086639 to 32086639; 31103457; 32048120
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