Individual #00177015

ID_report 47651
Reference -
Remarks -
Gender M
Consanguinity no
Country Switzerland
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases EE
Owner name Anaïs Begemann
Database submission license No license selected
Created by Anaïs Begemann
Date created 2018-08-16 12:00:21 +02:00 (CEST)
Date last edited 2018-08-17 11:41:48 +02:00 (CEST)


Phenotypes

encephalopathy, epileptic (EE) (EE)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Inheritance     

Age/Examination     

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Protein     

Owner     
0000141832 HP:0000666 HP:0002451 HP:0001285 - Epilepsy, hearing loss, and mental retardation syndrome (MIM 616577) Familial, autosomal recessive - - 00y08m - - Anaïs Begemann



Screenings


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Owner     
0000177907 DNA SEQ-NG-I blood WES - 4 Anaïs Begemann
0000182059 DNA arrayCNV blood - - 1 Anaïs Begemann



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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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Predict-BioInf     

Legacy protein change     

Protein level     
4 Paternal (confirmed) +?/. - likely pathogenic (recessive) g.123855735_123855737del g.122934580_122934582del - - SPATA5_000015 - PubMed: Papuc 2019 - - Germline - - - - - Anaïs Begemann SPATA5 - - - - - NM_145207.2:c.989_991del - r.(?) p.(Thr330del) - - - - - - - - - - - - - -
4 Maternal (confirmed) +?/. - likely pathogenic g.(123951799_123952079)_(124003383_ 124003384)del - 123952079_124003383del - chr4_003296 - PubMed: Papuc 2019 - - Germline - - - - - Anaïs Begemann - - - - - - - - - - - - - - - - - - - - - - -
11 Paternal (confirmed) -?/. - likely benign g.108124761T>C g.108254034T>C - - ATM_000644 - PubMed: Papuc 2019 - rs4986761 Germline - - - - - Anaïs Begemann ATM - - - - - NM_000051.3:c.2119T>C - r.(?) p.(Ser707Pro) - - - - - - - - - - - - - -
X Maternal (confirmed) -/. - benign g.50658966G>A g.50915966G>A - - BMP15_000012 - PubMed: Papuc 2019 - rs104894767 Germline - - - - - Anaïs Begemann BMP15 - - - - - NM_005448.2:c.538G>A - r.(?) p.(Ala180Thr) - - - - - - - - - - - - - -
X Maternal (confirmed) -?/. - likely benign g.132160273G>A g.133026245G>A - - USP26_000008 - PubMed: Papuc 2019 - rs145695346 Germline - - - - - Anaïs Begemann USP26 - - - - - NM_031907.1:c.1976C>T - r.(?) p.(Thr659Met) - - - - - - - - - - - - - -
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