Individual #00095107

ID_report -
Reference PubMed: Reinstein 2013, Journal: Reinstein 2013
Remarks 2-generation family, affected son, patient M1
Gender M
Consanguinity -
Country -
Population -
Age at death >10y (later than 10 years)
VIP -
Data_av added by student Marcella Burhan Ali Mansyur
Treatment -
Panel size 2
Diseases PVNH4
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

heterotopia, periventricular, Ehlers-Danlos variant, type 4 (PVNH-4) (PVNH4)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000073503 no abnormality of habitus (HP:0004323), joint hypermobility (HP:0001382), seizures (HP:0001250), periventricular heterotopia (HP:0002282), mitral valve prolapse (HP:0001634), thin skin (HP:0000963), doughy skin (HP:0001027), no skin hyperextensibility (-HP:0000974), no poor wound healing (-HP:0001058), non dysmorphic face (-HP:0001999), high arched palate (HP:0002705), supraumbilical hernia (HP:0001537); brain MRI periventricular heterotropia (PH); ECG prolapse mitral valve; 8y supra-umbilical hernia repaired; 1m small atrial septal defect; normal wound healing - - Familial, X-linked dominant 10y - 00y01m - - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000095506 DNA SEQ;SEQ-NG - - FLNA 1 Johan den Dunnen



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Predict/Splice     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic g.153595780G>A g.154367412G>A - - FLNA_000117 FLNA protein expression in transformed cell line 0.30 compared to control PubMed: Reinstein 2013, Journal: Reinstein 2013 - - Germline - - - - - Johan den Dunnen FLNA - - - - 5 NM_001110556.1:c.853C>T - r.(?) p.(Arg285Cys) - - - - - - - - - - - - - - - - - - -
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