Hereditary Pigmentary Disorders

Gene: PSENEN

Green List (high evidence)

PSENEN (presenilin enhancer gamma-secretase subunit)
EnsemblGeneIds (GRCh38): ENSG00000205155
EnsemblGeneIds (GRCh37): ENSG00000205155
OMIM: 607632, Gene2Phenotype
PSENEN is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 families reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Created: 19 Mar 2021, 2:28 a.m. | Last Modified: 19 Mar 2021, 2:28 a.m.
Panel Version: 0.6776

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dowling-Degos disease MONDO:0008371
OMIM
607632
Clinvar variants
Variants in PSENEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: psenen has been classified as Green List (High Evidence).

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: psenen has been classified as Green List (High Evidence).

30 May 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PSENEN was added gene: PSENEN was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSENEN were set to 20929727; 21412258; 27900998 Phenotypes for gene: PSENEN were set to Dowling-Degos disease MONDO:0008371