COVID-19 research
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 Green
- IUIS Classification February 2018
- IUIS Classification February 2018
- Phenotypes
-
- Hidradenitis suppurative with cutaneous hyperpigmentation
- Acne inversa, familial, 3 613737
- Defects in Intrinsic and Innate Immunity
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Familial hidradenitis suppurativa
- Childhood onset hereditary spastic paraplegia
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Added New Source, Set Phenotypes, Status Update
Ellen McDonagh (Genomics England Curator)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)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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