ARHGEF6

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ARHGEF6 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 46

Red ARHGEF6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

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