ALG6

ALG6, alpha-1,3-glucosyltransferase
OMIM: 604566, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green ALG6 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.207

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ic (MIM#603147)

Green ALG6 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.66

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Green ALG6 in Mendeliome


    Version 1.2655

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Green ALG6 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.157

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Red ALG6 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.545

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Red ALG6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.581

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Green ALG6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.174

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Green ALG6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type Ic, 603147 (3)

    Green ALG6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type Ic

    Green ALG6 in Fetal anomalies


    Version 1.370

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Green ALG6 in Prepair 1000+


    Level 2: Screening
    Version 2.13

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Red ALG6 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Congenital disorder of glycosylation, type Ic (MIM#603147)

    Green ALG6 in Prepair 500+


    Level 2: Screening
    Version 2.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type Ic, MIM#603147