CNP

2',3'-cyclic nucleotide 3' phosphodiesterase
OMIM: 123830, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber CNP in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Leukodystrophy, hypomyelinating, 20, OMIM:619071
    Tags
    • watchlist