PSEN2 gene related symptoms and diseases
All the information presented here about the PSEN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PSEN2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dementia | Common - Between 50% and 80% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Parkinsonism | Uncommon - Between 30% and 50% cases |
| Congestive heart failure | Uncommon - Between 30% and 50% cases |
| Dilated cardiomyopathy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PSEN2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Syncope
- Neurofibrillary tangles
- Alzheimer disease
- Hallucinations
- Cardiomyopathy
- Cerebral cortical atrophy
- Myoclonus
Rarely - Less than 30% cases
- Ventricular arrhythmia
And 69 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PSEN2 gene
Here you will find a list of rare diseases related to the PSEN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALZHEIMER DISEASE 4
Alternate names
ALZHEIMER DISEASE 4 Is also known as ad4, alzheimer disease, familial, 4
Description
Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
Most common symptoms of ALZHEIMER DISEASE 4
- Seizures
- Tremor
- Depressivity
- Dementia
- Myoclonus
More info about ALZHEIMER DISEASE 4
CARDIOMYOPATHY, DILATED, 1V; CMD1V
Most common symptoms of CARDIOMYOPATHY, DILATED, 1V; CMD1V
- Cardiomyopathy
- Congestive heart failure
- Dementia
- Dilated cardiomyopathy
- Syncope
More info about CARDIOMYOPATHY, DILATED, 1V; CMD1V
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
Alternate names
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc
Description
Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
- Sensorineural hearing impairment
- Feeding difficulties
- Fatigue
- Ventriculomegaly
- Cardiomyopathy
More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE
Alternate names
EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as early-onset familial autosomal dominant alzheimer disease, eofad, familial alzheimer disease
Description
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
Most common symptoms of EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE
- Intellectual disability
- Seizures
- Ataxia
- Hypertonia
- Dementia
More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE
SOURCES: ORPHANET
Search interest in PSEN2
Potential gene panels for PSEN2 gene
ADmark® PSEN2 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the PSEN2 gene.
More info about this panel United States.
ADmark® Early Onset Alzheimer's Evaluation Panel
United States.
By Athena Diagnostics Inc ADmark® Early Onset Alzheimer's Evaluation that also includes the following genes: APP PSEN1 PSEN2
More info about this panel United States.
Dementia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72
More info about this panel United States.
APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: APOE APP PSEN1 PSEN2
More info about this panel Spain.
PSEN2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TCAP TNNC1 TPM1 VCL ACTC1 LDB3 DES MYH6 PSEN1 PSEN2
More info about this panel Spain.
Alzheimer disease type 4 (sequence analysis of PSEN2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PSEN2 gene.
More info about this panel Portugal.
Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes) Panel
Portugal.
By CGC Genetics Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2
More info about this panel Portugal.
Alzheimer disease (NGS panel for 8 genes) Panel
Portugal.
By CGC Genetics Alzheimer disease (NGS panel for 8 genes) that also includes the following genes: SNCA SNCB SORL1 APOE APP PRNP PSEN1 PSEN2
More info about this panel Portugal.
Hereditary dementias (NGS panel for 28 genes) Panel
Portugal.
By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10
More info about this panel Portugal.
Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) Panel
Portugal.
By CGC Genetics Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2
More info about this panel Portugal.
Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) Panel
Portugal.
By CGC Genetics Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2
More info about this panel Portugal.
Alzheimer's Disease, Familial via PSEN2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PSEN2 gene.
More info about this panel United States.
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2
More info about this panel United States.
Alzheimer Disease, Familial, Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Alzheimer Disease, Familial, Sequencing Panel with CNV Detection that also includes the following genes: APP PSEN1 PSEN2
More info about this panel United States.
Dementia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dementia Sequencing Panel with CNV Detection that also includes the following genes: SQSTM1 TARDBP TYROBP UBQLN2 TREM2 CHMP2B C9orf72 FUS GRN APP
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
Alzheimer Disease Type 4 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PSEN2 gene.
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Alzheimer´s disease Panel
Czech Republic.
By DNA Diagnostics Laboratory University Hospital Ostrava Alzheimer´s disease that also includes the following genes: APP PSEN1 PSEN2
More info about this panel Czech Republic.
Alzheimer disease type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PSEN2 gene.
More info about this panel Germany.
Alzheimer dementia and dementia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Alzheimer dementia and dementia panel that also includes the following genes: SORL1 TREM2 APOE APP PRNP PSEN1 PSEN2
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Cardiomyopathy, dilated type 1V Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PSEN2 gene.
More info about this panel Germany.
Frontotemporal Dementia (FTD) Panel Panel
Germany.
By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2
More info about this panel Germany.
Alzheimer's disease Panel Panel
Germany.
By CeGaT GmbH Alzheimer's disease Panel that also includes the following genes: TBP VPS35 MARK4 NLGN1 CD33 TOMM40 ABCA7 APOE APP PSEN1
More info about this panel Germany.
Dementia all Panel Panel
Germany.
By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4
More info about this panel Germany.
Single gene testing PSEN2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PSEN2 gene.
More info about this panel Germany.
Alzheimer disease Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Alzheimer disease that also includes the following genes: SORL1 TREM2 GRN APP PSEN1 PSEN2
More info about this panel Poland.
Alzheimer Disease Type 4 (PSEN2) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PSEN2 gene.
More info about this panel Germany.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Dilated Cardiomyopathy Panel Panel
Spain.
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
Alzheimer Disease Type 4 Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the PSEN2 gene.
More info about this panel Germany.
Test for Alzheimer Disease Type 4 Panel
Spain.
By Secugen SL
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
Alzheimer Disease Type 4, Alzheimer Disease, Early-Onset Familia Panel
Germany.
By ATG-GenMed ATG-GenMed
This panel specifically test the PSEN2 gene.
More info about this panel Germany.
Invitae Hereditary Alzheimer's Disease Panel Panel
United States.
By Invitae Invitae Hereditary Alzheimer's Disease Panel that also includes the following genes: APP PSEN1 PSEN2
More info about this panel United States.
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel
United States.
By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Alzheimer (Presenilin 1 and 2): PSEN1 and PSEN2 genes sequence analysis (select exons) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer (Presenilin 1 and 2): PSEN1 and PSEN2 genes sequence analysis (select exons) that also includes the following genes: PSEN1 PSEN2
More info about this panel Spain.
Alzheimer (Presenilin 2): PSEN2 gene sequence analysis (exons 5-6, 8) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) that also includes the following genes: APOE APP A2M PSEN1 PSEN2
More info about this panel Spain.
Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) that also includes the following genes: APOE APP MAPT A2M PSEN1 PSEN2
More info about this panel Spain.
Alzheimer (Presenilin 2): PSEN2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
CARDIOMYOPATHY, DILATED (DCM Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CARDIOMYOPATHY, DILATED (DCM that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel Spain.
PSEN2 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the PSEN2 gene.
More info about this panel Netherlands.
NGS panel - dementia Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB
More info about this panel Netherlands.
Pan-Cardio NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panel United States.
Parkinson-Alzheimer-Dementia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panel United States.
Sudden Death Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3
More info about this panel United States.
Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel that also includes the following genes: APP PSEN1 PSEN2
More info about this panel United States.
PSEN2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PSEN2 gene.
More info about this panel United States.
Dementia Panel Panel
Finland.
By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R
More info about this panel Finland.
Cardiomyopathy, dilated type 1V Panel
Spain.
By Bioarray
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
Early-onset autosomal dominant Alzheimer disease type 4 Panel
Spain.
By Bioarray
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
Alzheimer Dementia (PSEN2 gene) Panel
Belgium.
By Diagnostic Service Facility University of Antwerp
This panel specifically test the PSEN2 gene.
More info about this panel Belgium.
Comprehensive Cardiomyopathy Panel Panel
United States.
By ApolloGen, Inc. Comprehensive Cardiomyopathy Panel that also includes the following genes: SCN5A BMPR2 SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1
More info about this panel United States.
Dilated Cardiomyopathy Panel Panel
United States.
By ApolloGen, Inc. Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNI3 TNNT2 TPM1 VCL ACTC1
More info about this panel United States.
Cardiomyopathy Exome Panel Panel
United States.
By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panel United States.
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2
More info about this panel Spain.
ALZHEIMER DISEASE, EARLY- ONSET FAMILIAL Panel
Spain.
By Laboratorio de Genetica Clinica SL ALZHEIMER DISEASE, EARLY- ONSET FAMILIAL that also includes the following genes: APP PSEN1 PSEN2
More info about this panel Spain.
DEMENTIA & ALZHEIMER: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEMENTIA & ALZHEIMER: NGS PANEL that also includes the following genes: SORL1 TARDBP VCP TREM2 CSF1R CHMP2B FUS GRN APOE ITM2B
More info about this panel Spain.
FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1
More info about this panel Spain.
Alzheimer Disease, Sequencing PSEN2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
Alzheimer Disease, Sequencing Exons (5,6,8) PSEN2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PSEN2 gene.
More info about this panel Spain.
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes Panel
Spain.
By Reference Laboratory Genetics Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panel Spain.
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: C9orf72 GRN APOE APP MAPT A2M PSEN1 PSEN2
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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