ALG2

ALG2, alpha-1,3/1,6-mannosyltransferase
OMIM: 607905, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red ALG2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ii (MIM# 607906)

    Amber ALG2 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228
    • Congenital disorder of glycosylation, type Ii, MIM# 607906
    Tags
    • founder

    Red ALG2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228
    • Congenital disorder of glycosylation, type Ii, MIM# 607906

    Red ALG2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228
    • Congenital disorder of glycosylation, type Ii, MIM# 607906

    Amber ALG2 in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
    Tags
    • founder

    Green ALG2 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
    • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)

    Red ALG2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Congenital disorder of glycosylation, type Ii

    Red ALG2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228
    • Congenital disorder of glycosylation, type Ii, MIM# 607906

    Red ALG2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228
    • Congenital disorder of glycosylation, type Ii, MIM# 607906

    Red ALG2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Congenital disorder of glycosylation, type Ii