Defects of intrinsic and innate immunity
Gene: PSENENEnsemblGeneIds (GRCh38): ENSG00000205155
EnsemblGeneIds (GRCh37): ENSG00000205155
OMIM: 607632, Gene2Phenotype
PSENEN is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>3 families reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Sources: Expert listCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psenen has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psenen has been classified as Green List (High Evidence).
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