VWA1_GGCGCGGAGC

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red VWA1_GGCGCGGAGC STR in Hereditary neuropathy or pain disorder


Level 2: Neurology
Version 7.36
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216
  • neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Tags
  • STR
  • NGS Not Validated