Individual #00240413

ID_report FamD
Reference PubMed: Heimer 2016
Remarks 2-generation family, 1 affected
Gender F
Consanguinity no
Country Tunisia
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DYT
Owner name Johan den Dunnen


Phenotypes

dystonia (DYT) (DYT)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000180477 dystonia Familial, autosomal recessive 07y DYTOABG - 06y06m - see paper; …, 6y6m-onset dystonia; 6y6m-onset optic atrophy, no intellectual disability (mild concentration difficulties); MRI bilateral hyperintense T2 signal dorsal putamen - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241523 DNA SEQ;SEQ-NG - WES MECR 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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 Both (homozygous) +/. g.29522747T>C - - - MECR_000007 - PubMed: Heimer 2016 - - Germline - - - 0 - Johan den Dunnen MECR - - - - - - NM_016011.2:c.854A>G - pathogenic (recessive) r.(?) p.(Tyr285Cys) - - - - - - - - - - - - - - - - - - -
Legend