PanelApp (stage)
  1. Genes and Genomic Entities
  2. LARGE1

LARGE1

LARGE xylosyl- and glucuronyltransferase 1
OMIM: 603590, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green LARGE1 in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154

    Green LARGE1 in Lissencephaly and Band Heterotopia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840

    Green LARGE1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber LARGE1 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.366

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154)
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840)

    Green LARGE1 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 Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840

    Green LARGE1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.65

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
    • Walker Warburg syndrome
    Tags
    • SV/CNV

    Green LARGE1 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green LARGE1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, MIM# 613154
    • Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840

    Green LARGE1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber LARGE1 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 Green
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840

    Green LARGE1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green LARGE1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green LARGE1 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
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)

    Red LARGE1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review Not set
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Cerebral Malformation Disorders

    Green LARGE1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Walker-Warburg syndrome

    Green LARGE1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154

    Green LARGE1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)

    Red LARGE1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840

    Green LARGE1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)