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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 12 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.

HGNC approved symbol/name: ST3GAL5
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 4 Mar 2025, 12:12 a.m. | Last Modified: 4 Mar 2025, 12:12 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salt and pepper developmental regression syndrome, MIM# 609056

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
OMIM
604402
Clinvar variants
Variants in ST3GAL5
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive for gene: ST3GAL5

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ST3GAL5 was added gene: ST3GAL5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive