Individual #00225649

ID_report Patient 4
Reference PubMed: Metodiev 2014
Remarks 2 affected
Gender M
Consanguinity yes
Country Algeria
Population -
Age at death 00y02m? (approximately 2 months)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases encephalopathy, neonatal, severe
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau


Phenotypes

encephalopathy, neonatal, severe (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000170752 Central apnoea (HP:0000961); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Abnormality of eye movement (HP:0000496); Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Vertigo/dizziness (HP:0002321) - - Familial, autosomal recessive - - 00y00m - - Thomas Foulonneau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227424 DNA SEQ - - ACO2 1 Thomas Foulonneau



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     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
22 Both (homozygous) +/. - likely pathogenic (recessive) g.41911862G>A g.41515858G>A - - ACO2_000023 - PubMed: Metodiev 2014 - - Germline yes - - 0 - Thomas Foulonneau ACO2 - - - - 6 NM_001098.2:c.776G>A - r.(?) p.(Gly259Asp) - - - - - - - - - - - - - - - - - - -
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