PAK2

p21 (RAC1) activated kinase 2
OMIM: 605022, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PAK2 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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Knobloch syndrome 2, OMIM:618458
Amber PAK2 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.120
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Knobloch 2 syndrome, OMIM:618458
    Tags
    • watchlist
    Amber PAK2 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Knobloch 2 syndrome, OMIM:618458
    Tags
    • Q1_26_promote_green