Primary immunodeficiencyGene: 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
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: psen1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PSEN1 were set to Hidradenitis suppurative with cutaneous hyperpigmentation; Defects in Intrinsic and Innate Immunity; Acne inversa, familial, 3 613737
Publications for gene: PSEN1 were set to 20929727
Phenotypes for gene PSEN1 were set to Hidradenitis suppurative with cutaneous hyperpigmentation, Defects in Intrinsic and Innate Immunity
PSEN1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
PSEN1 was created by Louise Daugherty