CNBP_CCTG

4 panels

Panel Reviews Mode of inheritance Details
4 panels
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