NPTX1

neuronal pentraxin 1
OMIM: 602367, Gene2Phenotype

2 panels

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


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

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
    Amber NPTX1 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 50, OMIM:620158
    Tags
    • Q2_25_ promote_green
    • Q2_25_ NHS_review