1. Genes and Genomic Entities
  2. PAK3

PAK3

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

4 panels

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


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

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 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green PAK3 in Severe Paediatric Disorders


    Version 1.184

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked 30/47, 300558