PanelApp
  1. Genes and Genomic Entities
  2. PLEKHN1

PLEKHN1

pleckstrin homology domain containing N1
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PLEKHN1 in Mendeliome


Version 1.3519

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related

Red PLEKHN1 in Pain syndromes


Level 2: Neurology and neurodevelopmental disorders
Version 0.36

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related