PSENEN

presenilin enhancer gamma-secretase subunit
OMIM: 607632, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PSENEN in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

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 1.130

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 1.50
Latest signed off version: v1.4 (15 Oct 2020)

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 1.54
Latest signed off version: v1.6 (15 Oct 2020)

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


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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