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| Hair disorders v0.78 | ARHGAP36 | Zornitza Stark Marked gene: ARHGAP36 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.78 | ARHGAP36 | Zornitza Stark Gene: arhgap36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.78 | ARHGAP36 | Zornitza Stark Publications for gene: ARHGAP36 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.77 | ARHGAP36 |
Zornitza Stark changed review comment from: 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. AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported. Sources: Expert Review; to: 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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| Hair disorders v0.77 | ARHGAP36 | Zornitza Stark edited their review of gene: ARHGAP36: Changed publications: 35986704, 40015599; Changed phenotypes: Bazex-Dupre-Christol syndrome, MIM# 301845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.77 | ARHGAP36 |
Zornitza Stark changed review comment from: 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. Sources: Expert Review; to: 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. 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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| Hair disorders v0.77 | ARHGAP36 | Zornitza Stark Classified gene: ARHGAP36 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.77 | ARHGAP36 | Zornitza Stark Gene: arhgap36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.76 | ARHGAP36 |
Zornitza Stark gene: ARHGAP36 was added gene: ARHGAP36 was added to Hair disorders. 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) 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. Sources: Expert Review |
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