Individual #00451603

ID_report 3bINP-060
Reference PubMed: Vela-Amieva 2024
Remarks -
Gender M
Consanguinity no
Country Mexico
Population Mexican
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SCOTD
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2024-06-13 00:15:00 +02:00 (CEST)
Date last edited 2025-04-02 09:42:42 +02:00 (CEST)


Phenotypes

succinyl-CoA acetoacetate transferase deficiency (SCOTD) (SCOTD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000340279 Attention deficit hyperactivity disorder, mild intellectual disability, seizures Succinyl CoA:3-oxoacid CoA transferase deficiency Succinyl CoA:3-oxoacid CoA transferase deficiency Familial, autosomal recessive - 02y - - - Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453205 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing OXCT1 1 Miriam Erandi Reyna-Fabián



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     

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Owner     

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IDbase Accession Number     

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Exon     

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Exon_old     

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Predicted     

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CpG     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
5 Both (homozygous) +/. ACMG pathogenic (recessive) g.41794110del g.41794008del - - OXCT1_000013 Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). This variant ffects the ultraconserved C-terminal domain (300-508aa). In silico analysis by MutPred-LOF (http://mutpred2.mutdb.org/mutpredlof/) predicts this variant as deleterious: 0.63016 (>0.5 = deleterious). - - rs1469148923 Germline yes - - - - Miriam Erandi Reyna-Fabián OXCT1 - - - - 13 NM_000436.3:c.1243del - r.(?) p.(Ile415Tyrfs*6) - - - - - - - - - - - - - -
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