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Regression

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Sources: Expert Review
Created: 21 Dec 2020, 2:57 a.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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)
Tags
founder
OMIM
604402
Clinvar variants
Variants in ST3GAL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: ST3GAL5.

21 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st3gal5 has been classified as Green List (High Evidence).

21 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st3gal5 has been classified as Green List (High Evidence).

21 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ST3GAL5 was added gene: ST3GAL5 was added to Regression. Sources: Expert Review Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL5 were set to 23436467; 22990144; 15502825; 27232954; 30691927; 30688114; 30576498 Phenotypes for gene: ST3GAL5 were set to 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) Review for gene: ST3GAL5 was set to GREEN