Individual #00052135

ID_report -
Reference PubMed: Matsumoto 2005, Journal: Matsumoto 2005
Remarks -
Gender M
Consanguinity -
Country Japan
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ALD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

adrenoleukodystrophy (ALD) (ALD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Intellectual_dis     

Owner     
0000038756 born 40w gestation, birth weight 3198g; 1y-normal developmental milestones; walk-12m; 3y-speak two-word sentences; developed convulsions several times since age 2y; 39m-admitted to hospital, normal height/weight/physical examinations, ECG spikes and spike-and-waves left occicipital region; MRI brain FLAIR-method high signal intensity areas both occicipital regions, small high-signal-intensity areas scattered in anterior/temporal parts cerebrum; motor and sensory nerve conduction velocity normal; ... - - Isolated (sporadic) - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052083 DNA PCR;SEQ - - ABCD1, PLXNB3 1 Johan den Dunnen



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     

Codon change     

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     
X Maternal (confirmed) +/. - pathogenic g.152996242_153031950del g.153730787_153766495del del ex3-10 and PLXNB3 ex1-2 - ABCD1_000036 deletion fuses ABCD1 and PLXNB3 gene (transcript not analysed) PubMed: Matsumoto 2005, Journal: Matsumoto 2005 - - Germline yes - - 0 - Johan den Dunnen ABCD1, PLXNB3 - - - - - 2i_10_, _1_2i NM_000033.3:c.1081+1375_*22761del, NM_005393.2:c.-33583_46-378del - r.?, r.0? p.?, p.0? - - - - - - - - - - - - - - - - - - -
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