Individual #00164541

ID_report -
Reference Le Roux 2019, submitted
Remarks -
Gender M
Consanguinity -
Country France
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases OPA
Owner name Bastien Le Roux
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre


Phenotypes

atrophy, optic (OPA) (OPA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Birth_Details     

MotorSkills     

Vision/Abnormality     

Vision/Other     

Hearing/Loss     

Eye/Optic_Disc     

Protein     

Eye/OCT     

Habits     

Histology     

Brain/Imaging     

Vision/Acuity     

Vision/Colour     

Vision/Field     

Owner     
0000129578 - optic atrophy OPA-1 Unknown 42y - - - birth weight: ? - photophobia - nr OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7 - other;OD RNFL two or more;OS RNFL two or more tobacco: 16-20 packs/year;alcohol: occasionally - - OD 0.4 LogMAR;OS 0.3 LogMAR OD tritanopia;OS tritanopia - Bastien Le Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165405 DNA SEQ Blood - OPA1 1 Bastien Le Roux



Variants

1 entry on 1 page. Showing entry 1.
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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/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     
3 Parent #1 +/+ - pathogenic g.193332703del g.193614914del - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - Bastien Le Roux OPA1 - - - - 2 NM_015560.2:c.224del, NM_130837.2:c.224del - r.(?) p.(Phe75Serfs*19) - - - - - - - - - - - - - - - - - - -
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