Individual #00409840

ID_report 1.1
Reference PubMed: Khan 2019
Remarks Family 1, individual 1.1 (proband)
Gender M
Consanguinity yes
Country United Arab Emirates
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-12 11:42:14 +02:00 (CEST)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000301956 myopia 7y6m; right / left eye refraction: -1.00-2.00x013 / -1.75- 2.50x071, best corrected visual acuity: 20/60, small-angle intermittent exotropia, no nystagmus; anterior segment slit-lamp examination: normal; retinal exam: the choroid showed just temporal to the optic discs and just peripheral to the arcades; fundus autofluorescence: increased signal just temporal and superior to the discs and along the arcades; optical coherence tomography: outer retinal loss peripheral to the central macula; full-field electroretinography: rod-cone dysfunction - rod-cone dystrophy Familial, autosomal recessive 8y - 7y photophobia - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000411104 DNA SEQ blood - IMPG2 1 LOVD



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     

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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     
3 Both (homozygous) +?/. - likely pathogenic g.101038575dup g.101319731dup IMPG2 c.189dup, p.Gln64Thrfs*9 - IMPG2_000148 homozygous PubMed: Khan 2019 - - Germline yes - - - - LOVD IMPG2 - - - - - NM_016247.3:c.189dup - r.(?) p.(Gln64Thrfs*9) - - - - - - - - - - - - - -
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