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| Additional findings_Paediatric v0.2 | CDH1 | Zornitza Stark Source BabySeq Category C gene was added to CDH1. Source Expert Review Red was added to CDH1. Added phenotypes Orofacial clefts for gene: CDH1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CDH1 | Zornitza Stark gene: CDH1 was added gene: CDH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDH1 were set to Gastric cancer | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | PCDH15 | Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||