Disorders of immune dysregulation

Gene: ERN1

Red List (low evidence)

ERN1 (endoplasmic reticulum to nucleus signaling 1)
EnsemblGeneIds (GRCh38): ENSG00000178607
EnsemblGeneIds (GRCh37): ENSG00000178607
OMIM: 604033, Gene2Phenotype
ERN1 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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 list
Created: 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