CNBP_CCTG

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CNBP_CCTG STR in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.45

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
  • STR
  • NGS Not Validated

Red CNBP_CCTG STR in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • STR
    • NGS Not Validated

    Green CNBP_CCTG STR in Skeletal muscle channelopathy


    Version 1.39
    Latest signed off version: v1.2 (2 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 2, OMIM:602668
    • Myotonic dystrophy type 2, MONDO:0011266
    Tags
    • NGS Not Validated
    • STR
    • Q4_21_expert_review

    Red CNBP_CCTG STR in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

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