PACSIN3

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
No list PACSIN3 in Congenital myopathy


Level 2: Neurology
Version 7.44
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 Removed
    • NHS GMS
    Red PACSIN3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.11
    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 7.1
    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