Dilated Cardiomyopathy and conduction defects
Gene: PSEN1
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
?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
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
Model of inheritance for gene PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PSEN1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PSEN1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
PSEN1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list