Individual #00302656

ID_report Subject 2
Reference PubMed: Gibson 2020
Remarks 2-generation family, 3 carriers, 2 affected
Gender F
Consanguinity no
Country United States
Population Hispanic ancestry
Age at death -
VIP 0
Data_av -
Treatment -
Panel ID 00302655
Panel size 1
Diseases neuropathy, optic, OPA9
Owner name Khadidja Guehlouz
Database submission license No license selected
Created by Khadidja Guehlouz


Phenotypes

atrophy, optic, type 9 (OPA-9) (OPA9)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000229737 Astigmatism (HP:0000483); Visual impairment (HP:0000505); Myopia (HP:0000545); Color vision defect (HP:0000551); Visual loss (HP:0000572); Exotropia (HP:0000577); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Juvenile onset (HP:0003621); Hypoplasia of the optic tract (HP:0007096); Abnormality of optic chiasm morphology (HP:0025163); Abnormal best corrected visual acuity test (HP:0030534) - - Familial, autosomal recessive 14y - - - - Khadidja Guehlouz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000303780 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/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     
22 Paternal (inferred) +/. - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline yes - - 0 - Khadidja Guehlouz ACO2 - - - - 4 NM_001098.2:c.487G>T - r.(?) p.(Val163Leu) - - - - - - - - - - - - - - - - - - -
22 Maternal (confirmed) +/. - likely pathogenic (recessive) g.41922398G>A g.41526394G>A - - ACO2_000122 - PubMed: 32449285 - - Germline yes - - 0 - Khadidja Guehlouz ACO2 - - - - 15 NM_001098.2:c.1894G>A - r.(?) p.(Val632Met) - - - - - - - - - - - - - - - - - - -
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