Individual #00287979

ID_report -
Reference Journal: Charif 2021
Remarks 2 generations, 3 carriers (Both non affected parents are heterozygous for each variant),1 affected
Gender M
Consanguinity ?
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases neuropathy, optic
Owner name Khadidja Guehlouz
Database submission license No license selected
Created by Khadidja Guehlouz
Date created 2020-02-14 19:50:33 +01:00 (CET)
Date last edited 2021-05-06 16:02:13 +02:00 (CEST)


Phenotypes

neuropathy, optic (neuropathy, optic)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000221712 Optic atrophy (HP:0000648); Seizures (HP:0001250); Memory impairment (HP:0002354) - - Familial, autosomal recessive 30y - 04y - - Khadidja Guehlouz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000289145 DNA SEQ-NG blood - ACO2 2 Khadidja Guehlouz



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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
22 Parent #1 +/. - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - Journal: Charif 2021 - - Germline yes - - - - Khadidja Guehlouz ACO2 - - - - 1i NM_001098.2:c.36+5del - r.spl? p.? - - - - - - - - - - - - - -
22 Parent #1 +/. - likely pathogenic (recessive) g.41911805G>C g.41515801G>C - - ACO2_000002 - Journal: Charif 2021 - - Germline yes - - - - Khadidja Guehlouz ACO2 - - - - 6 NM_001098.2:c.719G>C - r.(?) p.(Gly240Ala) - - - - - - - - - - - - - -
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