PanelApp
  1. Genes and Genomic Entities
  2. DPM3

DPM3

dolichyl-phosphate mannosyltransferase subunit 3
OMIM: 605951, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DPM3 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
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937
    • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992

    Green DPM3 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937
    • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992

    Green DPM3 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937
    • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992

    Red DPM3 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 Red
    • Genetic Health Queensland
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937

    Red DPM3 in Skeletal dysplasia

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

    		1 review Unknown
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Io 612937

    Green DPM3 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937

    Red DPM3 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937