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 1.32

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 0.86

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

    Green GSN in Corneal Dystrophy


    Level 2: Ophthalmological disorders
    Version 1.11

    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 1.2374

    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 Amyloidosis


    Version 0.32

    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 1.19

    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 0.196

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