Defects of intrinsic and innate immunity

Gene: PSENEN

Green List (high evidence)

PSENEN (presenilin enhancer gamma-secretase subunit)
EnsemblGeneIds (GRCh38): ENSG00000205155
EnsemblGeneIds (GRCh37): ENSG00000205155
OMIM: 607632, Gene2Phenotype
PSENEN is in 2 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
Sources: Expert list
Created: 19 Mar 2021, 2:26 a.m. | Last Modified: 19 Mar 2021, 2:26 a.m.
Panel Version: 0.56

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
  • Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
OMIM
607632
Clinvar variants
Variants in PSENEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Mar 2021, 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 Defects of innate immunity. 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; 32048120 Phenotypes for gene: PSENEN were set to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736 Review for gene: PSENEN was set to GREEN