| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4852 | ARHGAP36 downstream regulatory region |
Sarah Milton Region: ARHGAP36 downstream regulatory region was added Region: ARHGAP36 downstream regulatory region was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: ARHGAP36 downstream regulatory region. Mode of inheritance for Region: ARHGAP36 downstream regulatory region was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ARHGAP36 downstream regulatory region were set to PMID: 40015599; 35986704; 38713094 Phenotypes for Region: ARHGAP36 downstream regulatory region were set to Bazex-Dupre-Christol syndrome, MIM#301845 Review for Region: ARHGAP36 downstream regulatory region was set to GREEN Added comment: ARHGAP36 is part of the Rho GTPase family and is a positive regulator of the SHH pathway. At least 10 families have been reported in the literature with duplications in an agenic region downstream of ARHGAP36 presenting with Bazex-Dupre-Christol syndrome. This syndrome is characterised by a triad of follicular atrophoderma, hypotrichosis and basal cell neoplasms. The duplications seen in affected individuals range from 18-135kb in size with the region thought to contain enhancers which increase expression of ARHGAP36. Functional studies involving immunofluorescence of hair of affected individuals in telogen demonstrated increased expression of ARHGAP36. Note: Coordinates used are the minimal region known to be duplicated in the reported cases. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||