Rare genetic inflammatory skin disorders
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Single family in literatureCreated: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACNE INVERSA, FAMILIAL, 3; ACNINV3
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that Green genes associated with Familial hidradenitis suppurativa should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.17
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- ACNE INVERSA, FAMILIAL, 3
- ACNINV3
- 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
- Intellectual disability
- 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
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Set Phenotypes, Set publications, Status Update
Catherine Snow (Genomics England)Source Expert Review Amber was added to PSEN1. Added phenotypes ACNE INVERSA, FAMILIAL, 3; ACNINV3 for gene: PSEN1 Publications for gene PSEN1 were changed from to 20929727 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to PSEN1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: PSEN1 was added gene: PSEN1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown