Autoinflammatory Disorders
Gene: RELA
Additional 6 individuals from five families reported.Created: 8 Aug 2023, 9:01 a.m. | Last Modified: 8 Aug 2023, 9:01 a.m.
Panel Version: 1.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mucocutaneous ulceration, chronic, MIM# 618287
Dominant negative RELA mutations in six patients from five unrelated families. Phenotypic overlap with RELA haploinsufficiency - chronic mucocutaneous ulcerations and autoimmune hematological disorders such as immune thrombocytopenia (ITP) and neutropenia. Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement.
Sources: LiteratureCreated: 7 Aug 2023, 1:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
periodic fever, inflammatory bowel disease, JIA
Publications
Gene: rela has been classified as Green List (High Evidence).
Phenotypes for gene: RELA were changed from periodic fever, inflammatory bowel disease, JIA to Mucocutaneous ulceration, chronic, MIM# 618287; periodic fever, inflammatory bowel disease, JIA
Gene: rela has been classified as Green List (High Evidence).
gene: RELA was added gene: RELA was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RELA were set to PMID: 37273177 Phenotypes for gene: RELA were set to periodic fever, inflammatory bowel disease, JIA Review for gene: RELA was set to GREEN