COVID-19 researchGene: PSEN1
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PSEN .PanelApp HGNC gene symbol check: PSEN1 . IUIS Disease: PSEN deficiency hidradenitis suppurativa . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Epidermis. IUIS Associated features: Hidradenitis suppurative with cutaneous hyperpigmentation. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 3:47 p.m.
Comment on phenotypes: Added phenotype from OMIM
Created: 5 Jul 2018, 3:50 p.m.
Comment on publications: Added publication reporting variants in this gene.
Created: 5 Jul 2018, 3:49 p.m.
In OMIM PSEN1 is provisionally associated with Acne inversa, familial, 3. Evidence comes from one 3-generation Chinese family reported by Wang et al. (2010) (PMID: 20929727). Affected individuals by acne inversa showed a heterozygosity for a frameshift mutation in the PSEN1 gene. The pattern of inheritance was autosomal dominant. Literature search has not revealed any further cases.
Created: 5 Jul 2018, 3:47 p.m.
Heterozygous frameshift mutations in this gene were linked to acne inversa (hydradenitis suppurativa) in one kindred - IUIS have classified as an intrinsic immune defect
Created: 30 Jun 2018, 5:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to PSEN1. Added phenotypes Hidradenitis suppurative with cutaneous hyperpigmentation; Acne inversa, familial, 3 613737; Defects in Intrinsic and Innate Immunity for gene: PSEN1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PSEN1 was added gene: PSEN1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSEN1 were set to 20929727 Phenotypes for gene: PSEN1 were set to Hidradenitis suppurative with cutaneous hyperpigmentation; Acne inversa, familial, 3 613737; Defects in Intrinsic and Innate Immunity