PSENEN

presenilin enhancer gamma-secretase subunit
OMIM: 607632, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PSENEN in Familial hidradenitis suppurativa Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Acne inversa, familial, 2, 613736 Acne inversa (AI) hidradenitis suppurativa
Green PSENEN in COVID-19 research Level 2: Viral research Version 1.142	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Acne inversa, familial, 2, with or without Dowling-Degos disease 613736 Defects in intrinsic and innate immunity Defects in Intrinsic and Innate Immunity Hidradenitis suppurativa
Green PSENEN in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE ACNINV2 Dowling-Degos disease
Green PSENEN in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
Amber PSENEN in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification December 2019 Expert Review Amber IUIS Classification February 2018 Phenotypes Defects in intrinsic and innate immunity Acne inversa, familial, 2, with or without Dowling-Degos disease 613736 Defects in Intrinsic and Innate Immunity Hidradenitis suppurativa