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This Panel is marked as Retired

Dilated Cardiomyopathy (DCM)
Gene: PSEN2

PSEN2 (presenilin 2)
EnsemblGeneIds (GRCh38): ENSG00000143801
EnsemblGeneIds (GRCh37): ENSG00000143801
OMIM: 600759, Gene2Phenotype
PSEN2 is in 4 panels

1 review

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.3

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, 1V

OMIM

Clinvar variants

Variants in PSEN2

Penetrance

Complete

Panels with this gene

History Filter Activity

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PSEN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PSEN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list