Individual #00457963

ID_report Pat1
Reference PubMed: Ganesh 2024
Remarks 2-generation family, 1 affected, unaffected non carrier parents
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NDD
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 2024-11-22 19:35:06 +01:00 (CET)
Date last edited N/A


Phenotypes

neurodevelopmental disorder (NDD) (NDD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000346413 neurodevelopmental delay NEDFSAB see paper; ..., 37w-birth weight 3.4 kg (60th), length 47 cm (15th), OFC 35 cm (75th); 2y-weight 10.1 kg (17th), height 74.5 cm (<1st), OFC 44.8 cm (1st); facial dysmorphisms; EEG 1m-normal, 4y-epileptiform discharges (generalized polyspike-and-wave); EEG background slowing, 4y-rhythmic delta slowing; 15m-infantile spasms, myoclonic seizures; no photosensitive seizures, no generalized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m- first neurodevelopmental symptoms/delay; 7y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress Isolated (sporadic) 07y - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000459583 DNA PCR;SEQ - - CHASERR 4 Johan den Dunnen



Variants

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
15 Parent #1 +/. - pathogenic (dominant) g.93411310_93433724del g.92868080_92890494del - - CHASERR_000001 22 kb deletion PubMed: Ganesh 2024 - - De novo - - - - - Johan den Dunnen CHASERR - - - - - - - - - - - - - - - - - - - - - - -
15 Parent #1 -?/. - likely benign g.93435503G>T g.92892273G>T - - CHASERR_000002 - PubMed: Ganesh 2024 - - De novo - - - - - Johan den Dunnen CHASERR - - - - - - - - - - - - - - - - - - - - - - -
15 Parent #1 -?/. - likely benign g.93442277G>C g.92899047G>C - - CHASERR_000003 - PubMed: Ganesh 2024 - - De novo - - - - - Johan den Dunnen CHASERR - - - - - - - - - - - - - - - - - - - - - - -
15 Parent #1 -?/. - likely benign g.93443759G>C g.92900529G>C - - CHASERR_000004 - PubMed: Ganesh 2024 - - De novo - - - - - Johan den Dunnen CHASERR, CHD2 - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.