1. Genes and Genomic Entities
  2. PAK3

PAK3

p21 (RAC1) activated kinase 3
OMIM: 300142, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PAK3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 30
  • AGENESIS OF THE CORPUS CALLOSUM
Green PAK3 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AGENESIS OF THE CORPUS CALLOSUM
    • MENTAL RETARDATION X-LINKED TYPE 30 300558
    Green PAK3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mental retardation, X-linked 30/47, 300558
    • Mental Retardation, X-linked
    • AGENESIS OF THE CORPUS CALLOSUM