Individual #00320336

ID_report Pat5
Reference PubMed: Lehalle 2020
Remarks -
Gender F
Consanguinity -
Country -
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     
0000242349 intellectual disability - Isolated (sporadic) pregnancy uncomplicated; neonatal jaundice, transient neonatal hepatomegaly; birth 38w, weight +1SD, length –1SD, OFC -1SD; length -4SD, OFC 0SD, BMI 19; severe developmental delay/intellectual disability; not walking; no speech; 6y-epilepsy; no developmental regression; hypotonia, lower limb spasticity; MRI brain short corpus callosum; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays metaphyseal enlargement; skin Blaschko’s lines; no umbilical hernia; abnomality of the vep; hearing loss; clubbing of fingers 10y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321522 DNA SEQ;SEQ-NG - - TFE3 1 Johan den Dunnen



Variants

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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     
X Unknown +/. - pathogenic (dominant) g.48895930A>G g.49038405A>G - - TFE3_000024 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen TFE3 - - - - - - NM_006521.4:c.572T>C - r.(?) p.(Leu191Pro) - - - - - - - - - - - - - - - - - - -
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