PanelApp
  1. Genes and Genomic Entities
  2. HSPB1

HSPB1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber HSPB1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.11

Component of the following Super Panels:

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

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • amyotrophic lateral sclerosis MONDO:0004976

    Green HSPB1 in Mendeliome


    Version 2.362

    		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


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.26

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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