ISCA-37436-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-37436-Loss Region in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 162500
  • Charcot-Marie-Tooth disease, type 1A
  • muscle weakness
  • repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop
  • Neuropathy, recurrent, with pressure palsies
  • mild to moderate peripheral neuropathy
Green ISCA-37436-Loss Region in Hereditary neuropathy or pain disorder


Version 3.94
Latest signed off version: v3.24 (15 May 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green