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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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