PanelApp
  1. Genes and Genomic Entities
  2. SIGMAR1

SIGMAR1

sigma non-opioid intracellular receptor 1
OMIM: 601978, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SIGMAR1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.39

Component of the following Super Panels:

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

    		•  3 reviews Unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SIGMAR1 in Mendeliome


    Version 1.3519

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 16, juvenile 614373
    • ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726
    • distal hereditary motor neuropathy of Jerash type (HMNJ)

    Green SIGMAR1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • ?Distal spinal muscular atrophy, autosomal recessive 2
    • dHMN/dSMA
    • Distal hereditary motor neuropathy of Jerash type (HMNJ)