Individual #00457927

ID_report Fam3Pat4
Reference PubMed: Heide 2022
Remarks family, 2 affected
Gender F
Consanguinity -
Country Reunion
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-11-21 14:48:01 +01:00 (CET)
Date last edited N/A


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000346377 GM3 synthase deficiency SPDRS see paper; ..., feeding difficulties; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; epilepsy; microcephaly (SD-4.4); hypotrophy; dyskinesia, chorea; normal pigmentation skin Familial, autosomal recessive 7y6m - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000459547 DNA SEQ;SEQ-NG - - - 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
2 Both (homozygous) +?/. - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - Johan den Dunnen ST3GAL5 - - - - - NM_003896.3:c.740G>A - r.(?) p.(Gly247Asp) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.