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Mendeliome

Gene: EPX

Red List (low evidence)

EPX (eosinophil peroxidase)
EnsemblGeneIds (GRCh38): ENSG00000121053
EnsemblGeneIds (GRCh37): ENSG00000121053
OMIM: 131399, Gene2Phenotype
EPX is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Biallelic variants cause eosinophil peroxidase deficiency, which is not associated with a clinical phenotype.
Created: 4 Apr 2022, 3:24 a.m. | Last Modified: 4 Apr 2022, 3:24 a.m.
Panel Version: 0.12510

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[Eosinophil peroxidase deficiency] MIM#261500

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • [Eosinophil peroxidase deficiency] MIM#261500
OMIM
131399
Clinvar variants
Variants in EPX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: epx has been classified as Red List (Low Evidence).

4 Apr 2022, Gel status: 1

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: EPX were changed from to [Eosinophil peroxidase deficiency] MIM#261500

4 Apr 2022, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: EPX were set to

4 Apr 2022, Gel status: 1

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: EPX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: epx has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPX was added gene: EPX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPX was set to Unknown