PanelApp (staging)
  1. Genes and Genomic Entities
  2. DST

DST

dystonin
OMIM: 113810, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DST in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.20

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 1.2302

1 review 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

Green DST in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.51

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 0.34

    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