SRPK3

SRSF protein kinase 3
OMIM: 301002, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red SRPK3 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • London South GLH
    Phenotypes
    • Nemaline myopathy, MONDO:0018958