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Fetal anomalies

Gene: ST3GAL5

Amber List (moderate evidence)

ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)
EnsemblGeneIds (GRCh38): ENSG00000115525
EnsemblGeneIds (GRCh37): ENSG00000115525
OMIM: 604402, Gene2Phenotype
ST3GAL5 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AMISH INFANTILE EPILEPSY SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AMISH INFANTILE EPILEPSY SYNDROME
OMIM
604402
Clinvar variants
Variants in ST3GAL5
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ST3GAL5 was added gene: ST3GAL5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME