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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