Individual #00451365

ID_report 3bINP-020
Reference PubMed: Vela-Amieva 2024
Remarks Familial case (brother affected: died at 04m)
Gender M
Consanguinity no
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 2024-05-31 20:05:08 +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     

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Age/Onset     

Phenotype/Onset     

Owner     
0000340121 Maple syrup urine disease Maple syrup urine disease, type Ib Moderate intellectual disability, distal lower limb hypertrophy Familial, autosomal recessive 08a07m 09y01m 09y09m - Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000452965 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing BCKDHB 2 Miriam Erandi Reyna-Fabián



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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VIP     

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Owner     

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Exon_old     

Function/GVS     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
6 Parent #1 +/. ACMG pathogenic (recessive) g.80878678T>A g.80168961T>A - - BCKDHB_000032 - - ClinVar-580585 rs774306610 Germline yes - - - - Miriam Erandi Reyna-Fabián BCKDHB - - - - 5, NM_000056.3:c.564T>A, NM_183050.2:c.564T>A - r.(?) p.(Cys188*) - - - - - - - - - - - - - -
6 Parent #2 +/. ACMG pathogenic (recessive) g.81053429T>A g.80343712T>A - - BCKDHB_000031 Confirmed by Sanger sequencing. Another patient (with the same phenotype) showed the same variant in homozygous state. - ClinVar-96568 rs398124565 Germline yes 2/97 patients - - - Miriam Erandi Reyna-Fabián BCKDHB - - - - 10, NM_000056.3:c.1087T>A, NM_183050.2:c.1087T>A - r.(?) p.(Tyr363Asn) - - - - - - - - - - - - - -
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