Dilated Cardiomyopathy (DCM)
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- 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
-
- Intellectual disability
- Hereditary spastic paraplegia, adult onset
- Neurodegenerative disorders, adult onset
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, adult onset
- COVID-19 research
- Leukodystrophy, adult onset
- Dilated Cardiomyopathy and conduction defects
- Dystonia, chorea or related movement disorder, childhood onset
- Familial hidradenitis suppurativa
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary spastic paraplegia, childhood onset
- Early onset dystonia
- Hereditary spastic paraplegia
- Rare genetic inflammatory skin disorders
History Filter Activity
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 (DCM)panel. 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 (DCM)panel. 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 (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list