Individual #00240406

ID_report example 1
Reference PubMed: Fresard 2019
Remarks 2-generation family, 2 affected brothers
Gender M
Consanguinity -
Country Canada
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases ?
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000180470 delayed motor milestones DYTOABG Familial, autosomal recessive - - 6m-delayed motor milestones, hypotonia evolving to spasticity, ataxic gait, progressive loss of motor skills - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241516 DNA;RNA RT-PCR;SEQ;SEQ-NG - - MECR 2 Johan den Dunnen



Variants

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

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
1 Parent #1 +/. g.29527026dup - 830+2dupT - MECR_000004 - PubMed: Fresard 2019 - - Germline yes - - 0 - Johan den Dunnen MECR - - - - - - NM_016011.2:c.830+2dup - pathogenic (recessive) r.spl p.? - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/. g.29557457C>G - - - MECR_000003 - PubMed: Fresard 2019 - - Germline yes - - 0 - Johan den Dunnen MECR - - - - - - NM_016011.2:c.-39G>C - pathogenic (recessive) r.? p.? - - - - - - - - - - - - - - - - - - -
Legend