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| Mendeliome v2.0 | ARHGAP36 downstream regulatory region | Region ARHGAP36 downstream regulatory region migrated (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | ARHGAP36 | Gene migrated from ENSG00000147256 to ENSG00000147256 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4854 | ARHGAP36 downstream regulatory region | Sarah Milton Classified Region: ARHGAP36 downstream regulatory region as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4854 | ARHGAP36 downstream regulatory region | Sarah Milton Region: arhgap36 downstream regulatory region has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4853 | ARHGAP36 downstream regulatory region | Sarah Milton Classified Region: ARHGAP36 downstream regulatory region as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4853 | ARHGAP36 downstream regulatory region | Sarah Milton Region: arhgap36 downstream regulatory region has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| Mendeliome v1.2842 | ARHGAP36 | Zornitza Stark Marked gene: ARHGAP36 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2842 | ARHGAP36 | Zornitza Stark Gene: arhgap36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2842 | ARHGAP36 | Zornitza Stark Classified gene: ARHGAP36 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2842 | ARHGAP36 | Zornitza Stark Gene: arhgap36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2841 | ARHGAP36 |
Zornitza Stark gene: ARHGAP36 was added gene: ARHGAP36 was added to Mendeliome. Sources: Expert Review SV/CNV, regulatory region tags were added to gene: ARHGAP36. Mode of inheritance for gene: ARHGAP36 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 gene: ARHGAP36 were set to 35986704; 40015599 Phenotypes for gene: ARHGAP36 were set to Bazex-Dupre-Christol syndrome, MIM# 301845 Mode of pathogenicity for gene: ARHGAP36 was set to Other Review for gene: ARHGAP36 was set to AMBER Added comment: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward. It is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene. Genomic coordinates (GRCh38) : X:129,500,001-138,900,000. At least 9 families reported but AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported. Sources: Expert Review |
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