Individual #00239184

ID_report Fukada2019 patient
Reference PubMed: Fukada 2019
Remarks 2 carriers, 1 affected
Gender F
Consanguinity no
Country Japan
Population japanese
Age at death 05y (5 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases neurodegeneration
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau


Phenotypes

neurodegeneration (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000179406 Seizures (HP:0001250); Ataxia (HP:0001251); Hypotonia (HP:0001290); Hyporeflexia of lower limbs (HP:0002600); Hyporeflexia of upper limbs (HP:0012391); Cerebral atrophy (HP :0002059); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hearing impairment (HP:0000365); Motor delay (HP:0001270); Nystagmus (HP:0000639) - - Familial, autosomal recessive 00y00m09d - - - ACO2 Thomas Foulonneau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249956 DNA SEQ-NG-I - - ACO2 2 Thomas Foulonneau



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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 Maternal (confirmed) +?/. - likely pathogenic (recessive) g.41920901G>A g.41524897G>A - - ACO2_000046 - PubMed: Fukada 2019 - - Germline yes - - - - Thomas Foulonneau ACO2 - - - - 13 NM_001098.2:c.1534G>A - r.(?) p.(Asp512Asn) - - - - - - - - - - - - - - - - - - -
22 Paternal (confirmed) +?/. - likely pathogenic (recessive) g.41923335G>C g.41527331G>C - - ACO2_000047 - PubMed: Fukada 2019 - - Germline yes - - - - Thomas Foulonneau ACO2 - - - - 16 NM_001098.2:c.1997G>C - r.(?) p.(Gly666Ala) - - - - - - - - - - - - - - - - - - -
Legend   How to query