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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36926348 - 9 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • RELA associated chronic mucocutaneous ulceration
OMIM
164014
Clinvar variants
Variants in RELA
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RELA. Added phenotypes RELA associated chronic mucocutaneous ulceration for gene: RELA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RELA. Added phenotypes RELA associated chronic mucocutaneous ulceration for gene: RELA Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RELA. Added phenotypes RELA associated chronic mucocutaneous ulceration for gene: RELA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RELA. Added phenotypes RELA associated chronic mucocutaneous ulceration for gene: RELA Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RELA. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes RELA associated chronic mucocutaneous ulceration for gene: RELA

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RELA was added gene: RELA was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown