| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vascular skin disorders v1.55 | ADAMTS13 |
Arina Puzriakova changed review comment from: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis. Additionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.; to: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura and petechiae, indicating that this panel may be applicable in some cases and represents a differential diagnosis. Additionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating. |
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| Vascular skin disorders v1.55 | ADAMTS13 |
Arina Puzriakova changed review comment from: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis. Previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.; to: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis. Additionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating. |
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| Vascular skin disorders v1.55 | ADAMTS13 |
Arina Puzriakova changed review comment from: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicates that this panel may be applicable in some cases and represents a differential diagnosis. Previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.; to: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicating that this panel may be applicable in some cases and represents a differential diagnosis. Previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating. |
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| Vascular skin disorders v1.55 | ADAMTS13 | Arina Puzriakova Classified gene: ADAMTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.55 | ADAMTS13 |
Arina Puzriakova Added comment: Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics). ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura, petechiae and vasculitis, indicates that this panel may be applicable in some cases and represents a differential diagnosis. Previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating. |
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| Vascular skin disorders v1.55 | ADAMTS13 | Arina Puzriakova Gene: adamts13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.8 | ADAMTS13 | Ivone Leong Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.7 | ADAMTS13 | Ivone Leong Publications for gene: ADAMTS13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.3 | ADAMTS13 | Zornitza Stark reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.24 | ADAMTS13 | Tom Cullup reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586351; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.18 | ADAMTS13 | Catherine Snow Classified gene: ADAMTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.18 | ADAMTS13 | Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, ADAMTS13 can be classified as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.18 | ADAMTS13 | Catherine Snow Gene: adamts13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.13 | ADAMTS13 | Catherine Snow reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v0.12 | ADAMTS13 |
Catherine Snow gene: ADAMTS13 was added gene: ADAMTS13 was added to Vascular skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal |
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