1. Genes and Genomic Entities
  2. CNBP

CNBP

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red CNBP in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review Other
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
  • nucleotide-repeat-expansion
Red CNBP in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Other
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • nucleotide-repeat-expansion
    Red CNBP in COVID-19 research


    Level 2: Viral research
    Version 1.146

    		review Other
    Sources
    • ESID Registry 20171117
    • Expert Review Red
    • Expert Review Red
    • ESID Registry 20171117
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • nucleotide-repeat-expansion
    Red CNBP in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Other
    Sources
    • Expert Review Red
    • ESID Registry 20171117
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • nucleotide-repeat-expansion
    Red CNBP in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • nucleotide-repeat-expansion
    Red CNBP in Skeletal muscle channelopathy


    Level 2: Neurology
    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Other
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • nucleotide-repeat-expansion
    Red CNBP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review Other
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    Tags
    • nucleotide-repeat-expansion
    Green CNBP_CCTG STR in Skeletal Muscle Channelopathies

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • STR
    Green CNBP_CCTG STR in Distal myopathies


    Level 2: Neurology
    Version 6.16
    Latest signed off version: v6.4 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • STR
    Amber CNBP_CCTG STR in Skeletal muscle channelopathy


    Level 2: Neurology
    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • STR
    Red CNBP_CCTG STR in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Expert Review
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    Tags
    • STR