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  3. RELA
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Autoinflammatory Disorders

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 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 8 Aug 2023, 9:01 a.m.
Last Modified: 8 Aug 2023, 9:01 a.m.
Panel version: 1.10

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

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: Literature
Created: 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

Created: 7 Aug 2023, 1:11 a.m.

Panel version: 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Mucocutaneous ulceration, chronic, MIM# 618287
  • periodic fever, inflammatory bowel disease, JIA
OMIM
164014
Clinvar variants
Variants in RELA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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).

8 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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).

7 Aug 2023, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

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