CNBP

CCHC-type zinc finger nucleic acid binding protein
OMIM: 116955, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CNBP in Fetal anomalies


Version 1.321

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Myotonic dystrophy 2, MIM#602668
Tags
  • STR

Green CNBP_DM2_CCTG STR in Mendeliome


Version 1.2511

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 2 MIM#602668

Green CNBP_DM2_CCTG STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.58

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2 MIM#602668

    Green CNBP_DM2_CCTG STR in Repeat Disorders


    Version 0.256

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2 MIM#602668
    Tags
    • adult-onset