Individual #00451464

ID_report 3bINP-044
Reference PubMed: Vela-Amieva 2024
Remarks Parents with consanguinity and consanguinity (not molecularly tested)
Gender F
Consanguinity yes
Country Mexico
Population Mexican
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ACADMD
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 2024-06-07 00:53:52 +02:00 (CEST)
Date last edited 2025-04-02 09:42:42 +02:00 (CEST)


Phenotypes

medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD) (ACADMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000340201 - Acyl-CoA dehydrogenase, medium chain, deficiency of Acyl-CoA dehydrogenase, medium chain, deficiency of (OMIM: 201450) Familial, autosomal recessive - 00y02m23d - - - Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453065 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing ACADM 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     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Parent #1 +/. ACMG pathogenic (recessive) g.76215194G>A g.75749509G>A - - ACADM_000017 Roman 2020:32853555, Gramer 2015:25940036, Koster 2014:24966162 - ClinVar-3588 rs121434274 Germline yes - - - - Miriam Erandi Reyna-Fabián ACADM - - - - 9 NM_000016.4:c.799G>A - r.(?) p.(Gly267Arg) - - - - - - - - - - - - - -
1 Parent #2 +/. ACMG pathogenic (recessive) g.76226820C>A g.75761135C>A - - ACADM_000056 - Smith 2010:20434380, Tolwani 2005:16121256 ClinVar-370434 rs1057516485 Germline yes - - - - Miriam Erandi Reyna-Fabián ACADM - - - - 11 NM_000016.4:c.959C>A - r.(?) p.(Ser320*) - - - - - - - - - - - - - -
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