PanelApp
  1. Genes and Genomic Entities
  2. GSN

GSN

gelsolin
OMIM: 137350, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red GSN in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.13

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

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

    Green GSN in Corneal Dystrophy


    Level 2: Ophthalmological disorders
    Version 2.4

    		2 reviews 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 Mendeliome


    Version 2.588

    		2 reviews 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
    • Spastic ataxia, MONDO:0017845, GSN-related

    Green GSN in Amyloidosis


    Version 2.2

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyloidosis, Finnish type, MIM#105200

    Red GSN in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.157

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic ataxia, MONDO:0017845, GSN-related

    Red GSN in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.5

    Component of the following Super Panels:

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

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic ataxia, MONDO:0017845, GSN-related

    Green GSN in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.101

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Red GSN in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.359

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