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  3. ST3GAL5
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Congenital disorders of glycosylation

Gene: ST3GAL5

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 4 variants reported as homozygotes and compound heterozygotes in Old Order Amish, African American, French, and Korean patients.
Created: 19 Dec 2016, 12:16 p.m.
Created: 19 Dec 2016, 12:16 p.m.

Panel version: 0.111

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 11:09 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Salt and pepper developmental regression syndrome 609056
  • Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
OMIM
604402
Clinvar variants
Variants in ST3GAL5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ST3GAL5 were set to 15502825; 24026681

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ST3GAL5 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

ST3GAL5 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

ST3GAL5 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ST3GAL5 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ST3GAL5 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ST3GAL5 was created by sleigh