ARHGEF6

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ARHGEF6 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.0

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • congenital anomaly of kidney and urinary tract, MONDO:0019719, ARHGEF6-related

    Amber ARHGEF6 in Mendeliome


    Version 2.42

    2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • congenital anomaly of kidney and urinary tract, MONDO:0019719, ARHGEF6-related

    Red ARHGEF6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 46
    Tags
    • disputed