Rare genetic inflammatory skin disorders

Gene: PSEN1

Amber List (moderate evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

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

Phenotypes
ACNE INVERSA, FAMILIAL, 3; ACNINV3

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

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

History Filter Activity

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

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)

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to PSEN1. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

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