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Additional findings_Paediatric v0.2 ABCC9 Zornitza Stark Source BabySeq Category C gene was added to ABCC9.
Source Expert Review Red was added to ABCC9.
Added phenotypes Atrial fibrillation, familial for gene: ABCC9
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ABCC9 Zornitza Stark Source BabySeq Category B gene was added to ABCC9.
Source Expert Review Amber was added to ABCC9.
Added phenotypes Cardiomyopathy, dilated for gene: ABCC9
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Additional findings_Paediatric v0.2 ABCC9 Zornitza Stark Added phenotypes Hypertrichotic osteochondrodysplasia for gene: ABCC9
Additional findings_Paediatric v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia