Individual #00017849

ID_report -
Reference PubMed: Beck 2010
Remarks -
Gender F
Consanguinity ?
Country United Kingdom (Great Britain)
Population -
Age at death >43y (later than 43 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PRND
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

prion disease (PRND) (PRND)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000016202 33y-psychotic depression, clumsiness, balance/gait difficulties, required residential home support; 34y-increasing gait disturbances, spastic paraparesis with extrapyramidal features, dyspraxia, urgency of micturition, short term memory difficulties, significant frontal lobe dysfunction; MRI moderate generalised atrophy; EEG non-specific changes; CSF slightly elevated S100, negative for 14-3-3 protein;mrapid cognitive decline with psychiatric disturbance, incontinence, leg spasms, cerebellar dysfunction; 43y-severly ill, bed bound, gastrotomy, requiring 24 hour nursing care, ... - - Isolated (sporadic) 33y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017830 DNA SEQ - - PRNP 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
20 Paternal (inferred) +/. - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - PubMed: Beck 2010 - - De novo yes - - 0 - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.314C>T - r.(?) p.(Pro105Leu) - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) -?/. - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - PubMed: Beck 2010 - - Germline ? - - 0 - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.385A>G - r.(?) p.(Met129Val) - - - - - - - - - - - - - - - - - - -
20 Maternal (confirmed) -?/. - likely benign g.4680491G>A g.4699845G>A - - PRNP_000045 - PubMed: Beck 2010 - - Germline no - - 0 - Johan den Dunnen PRNP - - - - 2 NM_000311.3:c.625G>A - r.(?) p.(Val209Met) - - - - - - - - - - - - - - - - - - -
Legend   How to query