Rare genetic inflammatory skin disordersGene: PSEN1
Single family in literature
Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ACNE INVERSA, FAMILIAL, 3; ACNINV3
Following discussion with the Genomics England clinical team it was agreed that Green genes associated with Familial hidradenitis suppurativa should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.17
Source Expert Review Amber was added to PSEN1. Added phenotypes ACNE INVERSA, FAMILIAL, 3; ACNINV3 for gene: PSEN1 Publications for gene PSEN1 were changed from to 20929727 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Expert Review Green was added to PSEN1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PSEN1 was added gene: PSEN1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown