PanelApp (test)
  1. Genes and Genomic Entities
  2. HSPB3

HSPB3

heat shock protein family B (small) member 3
OMIM: 604624, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red HSPB3 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuronopathy, distal hereditary motor, type IIC, MIM# 613376

Red HSPB3 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • HMSN, dHMN/dSMA
    • ?Neuronopathy, distal hereditary motor, type IIC, 613376