Individual #00207518

ID_report P1
Reference PubMed: Fauth et al., 2016
Remarks -
Gender M
Consanguinity no
Country Bosnia and Herzegovina;Switzerland
Population European
Age at death 00y00m15d (15 days)
VIP 0
Data_av -
Treatment Anti-epileptic medications
Panel size 1
Diseases SGBS
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau


Phenotypes

encephalopathy, epileptic, early infantile (EIEE) (EIEE)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Protein     

Intellectual_dis     

Owner     
0000155295 High anterior hairline, upslanted palpebral fissures, a depressed nasal bridge, short nose with anteverted nares, malar flattening, a long philtrum, a thin vermilion of the lips, down‐turned corners of the mouth, micrognathia, a cleft soft palate, large and uplifted earlobes, an overfolded helix of the left ear, and a short neck. Widely spaced nipples. Severe muscular hypotonia and multiple contractures involving the elbows, wrists, fingers, hips and knees, short limbs, and rocker‐bottom feet. Small cerebellum, white‐matter immaturity, prominent sulci, and small optic nerves. Tonic seizures with ocular deviation. Hepatosplenomegaly and developed sepsis from necrotizing enterocolitis. Echochardiography showed a persistent foramen ovale and mild pulmonary hypertension. ALP level not recorded. - EIEE Familial, X-linked - - - - - - Philippe Campeau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208554 DNA SEQ;SEQ-NG Peripheral blood WES PIGA 1 Philippe Campeau



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)     

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ISCN     

DB-ID     

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Owner     

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Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous - - - Germline - - - 0 - Philippe Campeau PIGA - - - - - - NM_002641.3:c.1234C>T - r.(?) p.(Arg412*) - - - - - - - - - - - - - - - - - - -
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