Dilated Cardiomyopathy and conduction defects
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
3 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
Only a single family reported with DCM and a variant in PSEN1. Disputed rating by clingen, so should be red on this panel.Created: 28 Feb 2023, 1:27 p.m. | Last Modified: 28 Feb 2023, 1:27 p.m.
Panel Version: 1.81
Phenotypes
Cardiomyopathy
Rebecca Whittington (South West GLH)
?Acne inversa, familial, 3 OMIM#613737; Alzheimer disease, type 3 OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques OMIM# 607822; Cardiomyopathy, dilated, 1U OMIM#613694; Dementia, frontotemporal OMIM#600274; Pick disease OMIM#172700Created: 25 Mar 2019, 4:30 p.m.
DCM very rare. Li 2006 Am J Hum Genet 79:1030.Created: 25 Mar 2019, 4:27 p.m.
Very rare cause of DCM and concern over predictive testing for Alzheimer diseaseCreated: 25 Mar 2019, 4:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cardiomyopathy, dilated, 1U
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- Complete
- 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
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to PSEN1. Mode of inheritance for gene PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PSEN1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PSEN1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)PSEN1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list