Activity
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10 actions
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| Bleeding and Platelet Disorders v0.297 | P2RY12 | Zornitza Stark Marked gene: P2RY12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.297 | P2RY12 | Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.297 | P2RY12 | Zornitza Stark Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.296 | P2RY12 | Zornitza Stark Publications for gene: P2RY12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.295 | P2RY12 | Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.294 | P2RY12 |
Zornitza Stark changed review comment from: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.; to: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Families with bi-allelic and mono-allelic disease reported. Dominant negative mechanism proposed for mono-allelic disease. |
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| Bleeding and Platelet Disorders v0.294 | P2RY12 | Zornitza Stark edited their review of gene: P2RY12: Changed publications: 11196645, 12578987, 29117459, 19237732; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.294 | P2RY12 | Zornitza Stark edited their review of gene: P2RY12: Changed phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.294 | P2RY12 | Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.0 | P2RY12 |
Zornitza Stark gene: P2RY12 was added gene: P2RY12 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: P2RY12 was set to Unknown |
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