PanelApp (stage)
  1. Genes and Genomic Entities
  2. GSN

GSN

gelsolin
OMIM: 137350, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red GSN in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Amyloidosis, Finnish type MIM#105120

    Green GSN in Vasculitis


    Level 2: Immunological disorders
    Version 0.82

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GSN in Corneal Dystrophy


    Level 2: Ophthalmological disorders
    Version 1.10

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyloidosis, Finnish type, MIM# 105120

    Green GSN in Mendeliome


    Version 1.1891

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyloidosis, Finnish type, MIM# 105120

    Green GSN in Renal Amyloidosis


    Level 2: Renal and urinary tract disorders
    Version 0.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Amyloidosis, Finnish type, MIM#105200

    Green GSN in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Amyloidosis, Finnish type MIM#105120

    Red GSN in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Amyloidosis, Finnish type, MIM# 105120