Individual #00405525

ID_report Pat1
Reference PubMed: Aoyama 2015
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity no
Country Japan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HMGCLD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-03-18 17:07:26 +01:00 (CET)
Date last edited N/A


Phenotypes

HMG-CoA lyase deficiency (HMGCLD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Inheritance     

Age/Examination     

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Protein     

Owner     
0000298048 see paper; ..., 2d-hypoglycemia, epilepsy, developmental delay HMG-CoA lyase deficiency HMGCLD Familial, autosomal recessive 13y - 00y00m02d - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

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Variants found     

Owner     
0000406765 DNA MLPA;PCR;SEQ - - HMGCL 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

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VIP     

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Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

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Exon_old     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Maternal (confirmed) +/. - pathogenic (recessive) g.24143146_24147626del g.23816656_23821136del NG_013061 g.9326-13806del - HMGCL_000051 - PubMed: Aoyama 2015 - - Germline - - - - - Johan den Dunnen HMGCL - - - - 1i_4i NM_000191.2:c.61-540_348+22del - r.? p.? - - - - - - - - - - - - - -
1 Paternal (inferred) +/. - pathogenic (recessive) g.24151875G>A - - - HMGCL_000050 - PubMed: Aoyama 2015 - - Germline - - - - - Johan den Dunnen HMGCL - - - - - NM_000191.2:c.31C>T - r.(?) p.(Arg11*) - - - - - - - - - - - - - -
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