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Primary immunodeficiency

Gene: PSEN1

Red List (low evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

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.

Eleanor Williams (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

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

Phenotypes
acne inversa

Publications

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: psen1 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Jul 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PSEN1 were set to Hidradenitis suppurative with cutaneous hyperpigmentation; Defects in Intrinsic and Innate Immunity; Acne inversa, familial, 3 613737

5 Jul 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PSEN1 were set to 20929727

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene PSEN1 were set to Hidradenitis suppurative with cutaneous hyperpigmentation, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PSEN1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

PSEN1 was created by Louise Daugherty