ST3GAL3

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber ST3GAL3 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 2.92 Latest signed off version: v2.4 (4 Mar 2020) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Phenotypes Epileptic encephalopathy, early infantile, 15 615006 ST3GAL3-CDG (Disorders of protein N-glycosylation)
Green ST3GAL3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.542	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ST3GAL3-CDG (Disorders of protein N-glycosylation) Intellectual disability
Green ST3GAL3 in Inborn errors of metabolism Version 2.263 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Epileptic encephalopathy, early infantile, 15 615006 ST3GAL3-CDG (Disorders of protein N-glycosylation)
Amber ST3GAL3 in Fetal anomalies Version 1.905 Latest signed off version: v1.92 (21 Aug 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
Amber ST3GAL3 in DDG2P Version 2.78 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Amber Phenotypes MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090
Amber ST3GAL3 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.572 Latest signed off version: v2.2 (13 Feb 2020)	review	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 15
Green ST3GAL3 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1677 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive 12, 611090Epileptic encephalopathy, early infantile, 15, 615006 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
Red ST3GAL3 in Childhood onset dystonia or chorea or related movement disorder Version 1.246 Latest signed off version: v1.137 (5 Aug 2021)	review	Not set	Sources Expert Review Red London North GLH
Green ST3GAL3 in Severe Paediatric Disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mental retardation, autosomal recessive 12, 611090 ?Epileptic encephalopathy, early infantile, 15, 615006