PanelApp (stage)
  1. Genes and Genomic Entities
  2. NPTX1

NPTX1

neuronal pentraxin 1
OMIM: 602367, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green NPTX1 in Mendeliome


Version 1.1891

review 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 1.16

Component of the following Super Panels:

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

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