Individual #00225466

ID_report Fam3PatII1
Reference PubMed: Ghosh 2018, Journal: Ghosh 2018
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity yes
Country Turkey
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases neurodegeneration
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 2019-02-17 09:44:27 +01:00 (CET)
Date last edited 2021-12-08 21:21:30 +01:00 (CET)


Phenotypes

neurodegeneration (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000170581 birth normal; early development normal; normal speech; normal motor development; no intellectual disabilityy, then delaye; 12y-MRI mild cerebellar atrophy, spinal cord atrophy; 4y-axonal polyneuropathy; 4y-unsteady gait ; phenotype exacerbated by illness and/or stress; claw hand and pes cavus deformities, scoliosis, 10y-sensorineural hearing loss, tracheotomy, ventilation neurodegenerative disorder CONDSIAS Familial, autosomal recessive 15y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226545 DNA SEQ;SEQ-NG - WES ADPRHL2 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     
1 Both (homozygous) +/. - pathogenic (recessive) g.36556868A>C g.36091267A>C - - ADPRHL2_000003 - PubMed: Ghosh 2018, Journal: Ghosh 2018 - - Germline - - - - - Johan den Dunnen ADPRHL2 - - - - - NM_017825.2:c.235A>C - r.(?) p.(Thr79Pro) - - - - - - - - - - - - - -
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