Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PSEN1EnsemblGeneIds (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 TissuesCreated: 6 Jul 2018, 3:47 p.m.
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Added phenotype from OMIMCreated: 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)
Heterozygous frameshift mutations in this gene were linked to acne inversa (hydradenitis suppurativa) in one kindred - IUIS have classified as an intrinsic immune defectCreated: 30 Jun 2018, 5:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
acne inversa
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- IUIS Classification February 2018
- Phenotypes
-
- Hidradenitis suppurative with cutaneous hyperpigmentation
- Defects in Intrinsic and Innate Immunity
- Acne inversa, familial, 3 613737
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Dilated Cardiomyopathy and conduction defects
- Adult onset leukodystrophy
- COVID-19 research
- Adult onset neurodegenerative disorder
- Familial hidradenitis suppurativa
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: psen1 has been classified as Red List (Low Evidence).
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
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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: PSEN1 were set to 20929727
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
Added New Source
Louise Daugherty (Genomics England Curator)PSEN1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
Created
Louise Daugherty (Genomics England Curator)PSEN1 was created by Louise Daugherty