ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3
OMIM: 606494, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ST3GAL3 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612
Green ST3GAL3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612
Green ST3GAL3 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612
Amber ST3GAL3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612
Green ST3GAL3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612
Green ST3GAL3 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003
Green ST3GAL3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612
Red ST3GAL3 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH