1. Genes and Genomic Entities
  2. NPTN

NPTN

neuroplastin
OMIM: 612820, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber NPTN in Intellectual disability


Level 2: Developmental disorders
Version 10.83
Latest signed off version: v10.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • Q3_26_promote_green