PanelApp
  1. Genes and Genomic Entities
  2. DST

DST

dystonin
OMIM: 113810, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DST 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
    • Literature
    Phenotypes
    • congenital myopathy MONDO:0019952, DST-related

    Green DST in Epidermolysis bullosa


    Level 2: Dermatological disorders
    Version 1.22

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425

    Green DST in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653
    • Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425
    • congenital myopathy MONDO:0019952, DST-related

    Green DST 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
    • congenital myopathy MONDO:0019952, DST-related

    Green DST in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Literature
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653
    • MONDO:0013839
    • HSAN/SFN

    Green DST in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VI MIM#614653

    Green DST in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 0.51

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
    • HSAN6