1. Panels
  2. Fetal anomalies
  3. ST3GAL5
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: ST3GAL5

Red List (low evidence)
ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)
EnsemblGeneIds (GRCh38): ENSG00000115525
EnsemblGeneIds (GRCh37): ENSG00000115525
OMIM: 604402, Gene2Phenotype
ST3GAL5 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low 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.

Clinical presentation is typically post-natal.
Created: 21 Dec 2020, 2:53 a.m. | Last Modified: 17 Feb 2022, 6:56 a.m.
Panel Version: 0.3610

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)

Publications

Created: 21 Dec 2020, 2:53 a.m.
Last Modified: 17 Feb 2022, 6:56 a.m.
Panel version: 0.3610

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple families reported.
Created: 10 Dec 2019, 12:01 p.m. | Last Modified: 10 Dec 2019, 12:01 p.m.
Panel Version: 0.1188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salt and pepper developmental regression syndrome; OMIM #609056

Publications

Created: 10 Dec 2019, 12:01 p.m.
Last Modified: 10 Dec 2019, 12:01 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1188

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Salt and pepper developmental regression syndrome
  • OMIM #609056
OMIM
604402
Clinvar variants
Variants in ST3GAL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st3gal5 has been classified as Red List (Low Evidence).

17 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ST3GAL5 were changed from AMISH INFANTILE EPILEPSY SYNDROME to Salt and pepper developmental regression syndrome; OMIM #609056

17 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ST3GAL5 were set to

17 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st3gal5 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME