1. Genes and Genomic Entities
  2. ARHGEF6

ARHGEF6

Rac/Cdc42 guanine nucleotide exchange factor 6
OMIM: 300267, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red ARHGEF6 in DDG2P


Version 3.88
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 Red
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 46 300436
    Red ARHGEF6 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    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
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Intellectual developmental disorder, X-linked 46, OMIM:300436