Individual #00016703

ID_report -
Reference PubMed: Coste 2013
Remarks -
Gender F
Consanguinity ?
Country -
Population Unknown
Age at death -
VIP -
Data_av -
Treatment Between the ages of 2–15 y, she required multiple orthopedic procedures on her hips, knees, and feet to improve function.
Panel size 1
Diseases ?
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-05-27 10:02:15 +02:00 (CEST)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000015228 - - Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia, Duane anomaly, Abnormal retinal pigmentation, Macular retinal folds, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Camptodactyly, Clinodactyly, Exertional dyspnea, FEV1/FVC 28%/26%, Increased muscle tone, Tendon reflexes weak, Normal intelligence, Hearing loss Isolated (sporadic) 38y - - - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016667 DNA SEQ - - PIEZO2 1 Marianne Vos (LOVD-team)



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     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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Exon_old     

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Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
18 Unknown +/? - pathogenic g.10671606_10671608del g.10671609_10671611del - - PIEZO2_000015 - PubMed: Coste 2013 - - De novo ? - - - - Marianne Vos (LOVD-team) PIEZO2 - - - - - NM_001378183.1:c.8520_8522del - r.(?) p.(Glu2840del) - - - - - - - - - - - - - -
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