Individual #00451460

ID_report 3bINP-042
Reference PubMed: Vela-Amieva 2024
Remarks Familial case (brother affected: died at 09m)
Gender F
Consanguinity no
Country Mexico
Population Mexican
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HMGCLD
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 2024-06-06 23:09:10 +02:00 (CEST)
Date last edited 2025-04-02 09:42:42 +02:00 (CEST)


Phenotypes

lissencephaly, type 1 (LIS-1) (LIS1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000340197 - HMG-CoA lyase deficiency HMG-CoA lyase deficiency Familial, autosomal recessive - 00y05m09d - - - Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453061 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCL 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     

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 Both (homozygous) +/. ACMG pathogenic (recessive) g.24147035C>A g.23820545C>A - - HMGCL_000024 - PubMed: Grünert 2017 PubMed: Muñoz-Bonet 2017 PubMed: Puisac 2013 ClinVar-195033 rs763494292 Germline yes - - - - Miriam Erandi Reyna-Fabián HMGCL - - - - 2 NM_000191.2:c.109G>T - r.(?) p.(Glu37*) - - - - - - - - - - - - - -
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