Individual #00451632

ID_report 3bINP-066
Reference PubMed: Vela-Amieva 2024
Remarks Familial case (sister affected: died at 07m)
Gender M
Consanguinity yes
Country Mexico
Population Mexican
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MSUD1B
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 2024-06-17 19:54:23 +02:00 (CEST)
Date last edited 2025-04-02 09:42:42 +02:00 (CEST)


Phenotypes

maple syrup urine disease, type Ib (MSUD1B)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000340294 Maple syrup urine disease Maple syrup urine disease, type Ib Mild intellectual disability, scoliosis, clubfoot Familial, autosomal recessive - 00y00m12d 00y00m01d - Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453234 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing BCKDHB 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     

DB-ID     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
6 Both (homozygous) +/. ACMG pathogenic (recessive) g.80816562del g.80106845del - - BCKDHB_000033 Bashyam 2012:22593002, Rodríguez-Pombo 2006:16786533 - ClinVar-527129 rs867612284 Germline yes - - - - Miriam Erandi Reyna-Fabián BCKDHB - - - - 1 NM_000056.3:c.152del, NM_183050.2:c.152del - r.(?) p.(Val51Glyfs*21) - - - - - - - - - - - - - -
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