Individual #00466013

ID_report FamDPatII1
Reference PubMed: Nicastro 2025, Journal: Nicastro 2025
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier mother
Gender M
Consanguinity no
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CCD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-07-07 12:08:40 +02:00 (CEST)
Date last edited N/A


Phenotypes

cardiac conduction defect (CCD) (CCD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000351398 see paper; ..., chest pain; cardiac arrest following bradycardia; no sinus node disease; AV conduction disease first atrioventricular block; no atrial arrhythmia; ventricular tachycardia; no hypertrophic cardiomyopathy; cardiac MRI significant LV fibrosis, inflammation; clinical myocarditis (not on cardiac histology) cardiac conduction defect - Familial, autosomal recessive - - 11y-15y chest pain - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000467664 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
3 Paternal (inferred) +/. - likely pathogenic (recessive) g.119373389C>T g.119654542C>T - - POPDC2_000001 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline/De novo (untested) - - - - - Johan den Dunnen POPDC2 - - - - - NM_001369919.2:c.563G>A - r.(?) p.(Trp188Ter) - - - - - - - - - - - - - -
3 Maternal (confirmed) +/. - likely pathogenic (recessive) g.119379160_119379163del g.119660313_119660316del - - POPDC2_000015 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline - - - - - Johan den Dunnen POPDC2 - - - - - NM_001369919.2:c.110_113del - r.(?) p.(Leu37SerfsTer20) - - - - - - - - - - - - - -
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