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STRs in panel
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COVID-19 research

Gene: RELA

Green List (high evidence)

RELA (RELA proto-oncogene, NF-kB subunit)
EnsemblGeneIds (GRCh38): ENSG00000173039
EnsemblGeneIds (GRCh37): ENSG00000173039
OMIM: 164014, Gene2Phenotype
RELA is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 1 May 2020, 12:44 p.m. | Last Modified: 1 May 2020, 12:44 p.m.
Panel Version: 0.171

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
chronic mucocutaneous ulceration; autoimmune lymphoporliferative syndrome

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • RelA haplosufficiency
  • Mucosal ulceration, impaired NFkB activation
  • Mucocutaneous ulceration, chronic, 618287
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
164014
Clinvar variants
Variants in RELA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to RELA. Added phenotypes RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Mucocutaneous ulceration, chronic, 618287; Immunodeficiencies affecting cellular and humoral immunity for gene: RELA Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RELA was added gene: RELA was added to Viral susceptibility. 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 28600438; 32086639; 32048120; 29305315 Phenotypes for gene: RELA were set to RelA haplosufficiency; Mucosal ulceration, impaired NFkB activation; Mucocutaneous ulceration, chronic, 618287; Immunodeficiencies affecting cellular and humoral immunity