ARHGAP36

Rho GTPase activating protein 36
OMIM: 300937, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ARHGAP36 in Mendeliome


Version 1.2975

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Bazex-Dupre-Christol syndrome, MIM# 301845
Tags
  • SV/CNV
  • regulatory region

Amber ARHGAP36 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.98

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Bazex-Dupre-Christol syndrome, MIM# 301845
Tags
  • SV/CNV
  • regulatory region

Amber ARHGAP36 in Hair disorders


Level 2: Dermatological disorders
Version 0.80

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Bazex-Dupre-Christol syndrome, MIM# 301845
Tags
  • SV/CNV
  • regulatory region