PanelApp (test)
  1. Genes and Genomic Entities
  2. CNP:Ensemblv90

CNP:Ensemblv90

2',3'-cyclic nucleotide 3' phosphodiesterase
OMIM: 123830, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CNP in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 20, MIM# 619071

Amber CNP in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.334

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 20, MIM# 619071

    Amber CNP in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Leukodystrophy, hypomyelinating, 20, MIM# 619071