Familial hidradenitis suppurativa
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green based on expert Green review and comment from Prof. John McGrath. Agreed amongst curation team (June 22nd 2017) that can promote to green based on Expert review with only 1 variant reported: One heterozygous PSEN1 variant reported in HS-affected individual in Wang et al., 2010 (PMID:20929727). PSEN1 is in phenotypic series with other gamma-secretase components NCSTN and PSENEN. Mouse skin phenotypes are seen on more severe reductions in presenilin expression.Created: 6 Jul 2017, 2:02 p.m.
Comment when marking as ready: PSEN1 marked as Ready: June 22nd 2017.Created: 22 Jun 2017, 11:58 a.m.
Comment on mode of inheritance: Monoallelic MOI supported by OMIM.Created: 20 Jun 2017, 8:41 a.m.
John McGrath (KCL)
PSENEN, NCSTN and PSEN1 should be green as they form the gamma-secretase complex, and pathogenic mutations have been described therein, notwithstanding that collectively they account for only approximately 7% of all HS.Created: 20 Jun 2017, 8:21 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Acne inversa, familial, 3, 613737
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- Complete
- 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
Rebecca Foulger (Genomics England curator)6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for PSEN1 were set to Acne inversa, familial, 3, 613737
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)PSEN1 was added to Familial hidradenitis suppurativapanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Rebecca Foulger (Genomics England curator)PSEN1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PSEN1 was added to Familial hidradenitis suppurativapanel. Sources: Literature