PACSIN3

protein kinase C and casein kinase substrate in neurons 3
OMIM: 606513, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber PACSIN3 in Congenital myopathy


Level 2: Neurology
Version 7.77
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Congenital myopathy 27, OMIM:621343
    • congenital myopathy 27, MONDO:0979897
    Tags
    • Q2_26_promote_green
    • Q2_26_NHS_review
    Red PACSIN3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.28
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Congenital myopathy 27, OMIM:621343
    Green PACSIN3 in DDG2P


    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PACSIN3-related childhood-onset myopathy with hyperCKaemia