DRP2:Ensemblv90

dystrophin related protein 2
OMIM: 300052, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green DRP2 in Mendeliome


Version 1.3802

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 1.68

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

    Green DRP2 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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