Individual #00296737

ID_report GC15672;FamEPatII1
Reference PubMed: Arno 2016
Remarks 2-generation family, 2 affected brothers, unaffected parents
Gender M
Consanguinity yes
Country India
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases retinal disease
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-04-11 19:49:19 +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     
0000224138 14y-nyctalopia (HP:0000662), late teens fields loss (HP:0001123); logMAR R 0.3 (20/40), L 0.18 (20/30); myopia (HP:0000545); fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), hyperpigmentation (HP:0011512), cystoid macular edema (HP:0011505); 15y-PERG normal, rod ERG undetectable (HP:0000550), delayed and profoundly reduced cone specific responses, severe rod-cone dystrophy (HP:0000548); fields to confrontation reduced to 30 degrees, early posterior subcapsular cataract (HP:0007787) retinitis pigmentosa RP77 Familial, autosomal recessive 29y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297847 DNA SEQ;SEQ-NG - WES REEP6 1 Johan den Dunnen



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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
19 Both (homozygous) +/. - pathogenic (recessive) g.1495537_1495538del g.1495538_1495539del - - REEP6_000011 - PubMed: Arno 2016 - - Germline yes - - - - Johan den Dunnen REEP6 - - - - - NM_138393.1:c.279_280del - r.(?) p.(Leu94Valfs*320) - - - - - - - - - - - - - -
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