ST3GAL5

ST3 beta-galactoside alpha-2,3-sialyltransferase 5
OMIM: 604402, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green ST3GAL5 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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
Green ST3GAL5 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Salt and pepper developmental regression syndrome MIM#609056
Green ST3GAL5 in Mendeliome Version 1.3499	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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
Green ST3GAL5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.263 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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
Green ST3GAL5 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.590	1 review	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
Green ST3GAL5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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
Green ST3GAL5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
Red ST3GAL5 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Amish infantile epilepsy syndrome
Red ST3GAL5 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Salt and pepper developmental regression syndrome OMIM #609056
Green ST3GAL5 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Salt and pepper developmental regression syndrome, MIM# 609056
Red ST3GAL5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Amish infantile epilepsy syndrome
Green ST3GAL5 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Salt and pepper developmental regression syndrome, MIM# 609056