Individual #00320350

ID_report Pat2
Reference PubMed: Diaz 2020
Remarks -
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000242363 intellectual disability - Isolated (sporadic) no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3y-walk; speech few words; developmental regression; hand stereotypies; 32m-epilepsy; hypotonia; MRI brain normal; coarse facies; height +0.16SD, BMI 18.5 (overweight), OFC +1.39SD; skin Blaschkoid pigmentary mosaicism; umbilical hernia; orthopedic anomalies; strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder 5y6m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321536 DNA SEQ;SEQ-NG - trio WES TFE3 2 Johan den Dunnen



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     

Codon change     

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     
4 Unknown +/. - pathogenic (recessive) g.996535G>A - - - IDUA_000036 - PubMed: Diaz 2020 - - Germline - - - 0 - Johan den Dunnen IDUA - - - - - - NM_000203.3:c.1205G>A - r.(?) p.(Trp402*) - - - - - - - - - - - - - - - - - - -
X Unknown +/. - pathogenic (dominant) g.48895721C>T g.49038196C>T - - TFE3_000022 - PubMed: Diaz 2020 - - De novo - - - 0 - Johan den Dunnen TFE3 - - - - - - NM_006521.4:c.780+1G>A - r.spl p.? - - - - - - - - - - - - - - - - - - -
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