ST3GAL3

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green ST3GAL3 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 1.613

    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 - targeted testing not possible


    Version 4.131
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green ST3GAL3 in Severe Paediatric Disorders


    Version 1.182

    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