PanelApp (staging)
  1. Genes and Genomic Entities
  2. DRP2

DRP2

dystrophin related protein 2
OMIM: 300052, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green DRP2 in Mendeliome


Version 1.2302

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot Marie Tooth, intermediate X-linked
  • HMSN

Green DRP2 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot Marie Tooth, intermediate X-linked
    • HMSN