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  3. RELA
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Inflammatory bowel disease

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, 8:49 a.m. | Last Modified: 8 Aug 2023, 8:58 a.m.
Panel Version: 0.105

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mucocutaneous ulceration, chronic, MIM# 618287

Publications

Created: 8 Aug 2023, 8:48 a.m.
Last Modified: 8 Aug 2023, 8:58 a.m.
Panel version: 0.103

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement. Complete penetrance was observed for IBD
Sources: Literature
Created: 7 Aug 2023, 1:19 a.m.

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

Phenotypes
Inflammatory bowel disease

Publications

Created: 7 Aug 2023, 1:19 a.m.

Panel version: 0.103

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Mucocutaneous ulceration, chronic, MIM# 618287
  • Inflammatory bowel disease
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 Inflammatory bowel disease to Mucocutaneous ulceration, chronic, MIM# 618287; Inflammatory bowel disease

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 Inflammatory bowel disease. 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 Inflammatory bowel disease Review for gene: RELA was set to GREEN