Individual #00303010

ID_report Pat55
Reference PubMed: Helbig 2016
Remarks -
Gender -
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases seizures
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 2020-06-05 14:08:27 +02:00 (CEST)
Date last edited N/A


Phenotypes

seizures (seizures)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000230093 seizures - Progressive Myoclonus Epilepsy; age onset childhood Familial, autosomal recessive - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304135 DNA SEQ-NG - WES KCTD7 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     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
7 Parent #1 +?/. ACMG likely pathogenic (recessive) g.66098260A>G g.66633273A>G - - KCTD7_000019 - PubMed: Helbig 2016 - - Germline - - - - - Johan den Dunnen KCTD7 - - - - - NM_153033.4:c.145-2A>G - r.spl p.? - - - - - - - - - - - - - -
7 Parent #2 +?/. ACMG likely pathogenic (recessive) g.66098307A>G g.66633320A>G - - KCTD7_000001 - PubMed: Helbig 2016 - - Germline - - - - - Johan den Dunnen KCTD7 - - - - - NM_153033.4:c.190A>G - r.(?) p.(Thr64Ala) - - - - - - - - - - - - - -
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