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Combined Immunodeficiency
Gene: RELA

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional 6 individuals from five families reported.
Created: 8 Aug 2023, 8:59 a.m. | Last Modified: 8 Aug 2023, 8:59 a.m.

Panel Version: 1.41

Two families reported, somewhat different phenotypes.
Sources: Expert list
Created: 3 Apr 2020, 3:55 a.m.

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

Created: 3 Apr 2020, 3:55 a.m.

Panel version: 1.41

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list

Phenotypes

Mucocutaneous ulceration, chronic, MIM# 618287
Impaired NFkB activation
reduced production of inflammatory cytokines
autoimmune cytopaenias

OMIM

Clinvar variants

Variants in RELA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RELA were set to 28600438; 29305315

8 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rela has been classified as Green List (High Evidence).

3 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RELA was added gene: RELA was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RELA were set to 28600438; 29305315 Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, MIM# 618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias Review for gene: RELA was set to AMBER