PCBP1

poly(rC) binding protein 1
OMIM: 601209, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
No list PCBP1 in Intellectual disability


Level 2: Developmental disorders
Version 11.45
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with intellectual disability and autism spectrum disorder