Individual #00207513

ID_report YoungerTwin
Reference PubMed: Xie et al., 2018
Remarks Monozygotic twins
Gender M
Consanguinity no
Country China
Population Chinese
Age at death >00y14m (later than 14 months)
VIP -
Data_av -
Treatment Antiepileptic medications, ketogenic diet therapy
Panel size 1
Diseases EEOC
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau


Phenotypes

encephalopathy, epileptic, childhood-onset (EEOC) (EEOC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

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Phenotype/Onset     

Protein     

Owner     
0000155291 Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 months. Normal ALP levels. Mild dysmorphism with wide-set eyes, depressed nasal bridge, and short anteverted nose. No status epilepticus, myoclonic seizures. No microcephaly, bone deformity or joint contracture. - EOEE Familial, X-linked - - - - - Philippe Campeau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208550 DNA SEQ;SEQ-NG - 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)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Unknown +/. - pathogenic g.15349943A>G g.15331821A>G - - PIGA_000057 Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function. - - - Germline/De novo (untested) - - - - - Philippe Campeau PIGA - - - - 2 NM_002641.3:c.110T>C - r.(?) p.(Met37Thr) - - - - - - - - - - - - - - - - - - -
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