Individual #00164584

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


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     
0000129621 - optic atrophy OPA-1 Unknown 8y - - - birth weight: 3500 - ? - nr OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal;OS peripapillary - - nr - MRI;optic atrophy (HP:0000648);optic nerve chiasmal lesions OD 0.9 LogMAR;OS 0.7 LogMAR OD ?;OS ? - Bastien Le Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165448 DNA SEQ Blood - OPA1 2 Bastien Le Roux



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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
3 Unknown +/+? - pathogenic g.193332718A>G g.193614929A>G - - OPA1_000139 eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - Bastien Le Roux OPA1 - - - - - , 2 NM_015560.2:c.239A>G, NM_130837.2:c.239A>G - r.(?) p.(Tyr80Cys) - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/? - VUS g.193353232G>A g.193635443G>A - - OPA1_000400 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - Bastien Le Roux OPA1 - - - - - 7, 9 NM_015560.2:c.704G>A, NM_130837.2:c.869G>A - r.(?) p.(Arg235Gln), p.(Arg290Gln) - - - - - - - - - - - - - - - - - - - -
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