PanelApp
  1. Genes and Genomic Entities
  2. HSPB1

HSPB1

heat shock protein family B (small) member 1
OMIM: 602195, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green HSPB1 in Mendeliome


Version 1.4216

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2F, 606595
  • MONDO:0011687
  • Neuropathy, distal hereditary motor, type IIB, 608634
  • MONDO:0012080

Green HSPB1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.77

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687