Genomics England
GMS Panels
Panels
Genes and Entities

PSENEN

presenilin enhancer gamma-secretase subunit
OMIM: 607632
PanelMode of inheritanceDetails
2 panels
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, ACNINV2, Dowling-Degos disease
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736