1. Genes and Genomic Entities
  2. NPTX1

NPTX1

neuronal pentraxin 1
OMIM: 602367, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green NPTX1 in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 50, OMIM:620158