PanelApp (test)
  1. Genes and Genomic Entities
  2. PLEKHN1:Ensemblv90

PLEKHN1:Ensemblv90

pleckstrin homology domain containing N1
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PLEKHN1 in Mendeliome


Version 1.3802

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

    Red PLEKHN1 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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