PanelApp (test)
  1. Genes and Genomic Entities
  2. PLEKHG5

PLEKHG5

pleckstrin homology and RhoGEF domain containing G5
OMIM: 611101, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PLEKHG5 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067

    Green PLEKHG5 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376
    • Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067

    Green PLEKHG5 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • HMSN, dHMN/dSMA
    • Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376
    • Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067