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| Additional findings_Paediatric v0.224 | P2RY12 | Zornitza Stark Phenotypes for gene: P2RY12 were changed from Bleeding disorder, platelet-type, 8 MIM# 609821 to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.223 | P2RY12 | Zornitza Stark Publications for gene: P2RY12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.222 | P2RY12 | Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.221 | P2RY12 | Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.40 | P2RY12 | Zornitza Stark Marked gene: P2RY12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.40 | P2RY12 | Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.40 | P2RY12 | Zornitza Stark Classified gene: P2RY12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.40 | P2RY12 | Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | P2RY12 |
Lilian Downie gene: P2RY12 was added gene: P2RY12 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: P2RY12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8 MIM# 609821 Added comment: 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. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list. Sources: Expert list Sources: Expert list |
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