Disorders of immune dysregulation
Gene: ERN1
ERN1 (endoplasmic reticulum to nucleus signaling 1)
EnsemblGeneIds (GRCh38): ENSG00000178607
EnsemblGeneIds (GRCh37): ENSG00000178607
OMIM: 604033, Gene2Phenotype
ERN1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000178607
EnsemblGeneIds (GRCh37): ENSG00000178607
OMIM: 604033, Gene2Phenotype
ERN1 is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
On the IUIS 2024 update for IEIs as a gene associated with an AD disease of immune dysregulation, I cannot find any evidence of Mendelian disease.
Sources: Expert listCreated: 16 Nov 2024, 3:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immune dysregulation
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Immune dysregulation
- OMIM
- 604033
- Clinvar variants
- Variants in ERN1
- Penetrance
- None
- Panels with this gene
History Filter Activity
16 Nov 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ern1 has been classified as Red List (Low Evidence).
16 Nov 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERN1 was added gene: ERN1 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: ERN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ERN1 were set to Immune dysregulation Review for gene: ERN1 was set to RED