PanelApp
  1. Genes and Genomic Entities
  2. DPAGT1

DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
OMIM: 191350, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green DPAGT1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type Ij
    • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750

    Green DPAGT1 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.375

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Congenital disorder of glycosylation, type Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964

    Green DPAGT1 in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 1.78

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964

    Green DPAGT1 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964
    • Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750

    Green DPAGT1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • tubular aggregate myopathy MONDO:0008051

    Green DPAGT1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964

    Green DPAGT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964

    Green DPAGT1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
    • UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
    • Congenital disorder of glycosylation, type Ij 608093

    Green DPAGT1 in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
    • Limb girdle congenital myasthenic
    • Congenital disorder of glycosylation, type Ij, 608093

    Green DPAGT1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)

    Green DPAGT1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green DPAGT1 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964
    • Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750

    Green DPAGT1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964
    • Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750

    Green DPAGT1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Congenital disorder of glycosylation, type Ij, MIM# 608093
    • DPAGT1-CDG MONDO:0011964
    • Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
    Tags
    • treatable
    • neurological