RELA

RELA proto-oncogene, NF-kB subunit
OMIM: 164014, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red RELA in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review Not set
Sources
  • Literature
Green RELA in COVID-19 research


Level 2: Viral research
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • RelA haplosufficiency
  • Mucosal ulceration, impaired NFkB activation
  • Mucocutaneous ulceration, chronic, 618287
  • Immunodeficiencies affecting cellular and humoral immunity
Green RELA in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.85
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • IUIS Classification December 2019
Phenotypes
  • Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
Green RELA in Autoinflammatory disorders


Level 2: Immunology
Version 2.35
Latest signed off version: v2.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Research
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287