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  3. RELA
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: RELA

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • reduced production of inflammatory cytokines
  • autoimmune cytopaenias
  • Impaired NFkB activation
  • Mucocutaneous ulceration, chronic, MIM#618287
OMIM
164014
Clinvar variants
Variants in RELA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RELA was added gene: RELA was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert list,Expert Review Amber 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 reduced production of inflammatory cytokines; autoimmune cytopaenias; Impaired NFkB activation; Mucocutaneous ulceration, chronic, MIM#618287