NPTX1:Ensemblv90

neuronal pentraxin 1
OMIM: 602367, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NPTX1 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cerebellar ataxia MONDO#0000437, NPTX1-related

Green NPTX1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

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 Green
    • Literature
    Phenotypes
    • cerebellar ataxia MONDO#0000437, NPTX1-related

    Green NPTX1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • cerebellar ataxia MONDO#0000437, NPTX1-related

    Green NPTX1 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • cerebellar ataxia MONDO#0000437, NPTX1-related

    Green NPTX1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • cerebellar ataxia MONDO#0000437, NPTX1-related