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| 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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| Additional findings_Paediatric v0.20 | P2RY1 |
Lilian Downie gene: P2RY1 was added gene: P2RY1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: P2RY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P2RY1 were set to Bleeding disorder, platelet-type, 8, MIM# 609821 Review for gene: P2RY1 was set to GREEN 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 |
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| Additional findings_Paediatric v0.2 | PROC |
Zornitza Stark gene: PROC was added gene: PROC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency |
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