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| Additional findings_Paediatric v0.2 | ACTC1 | Zornitza Stark Added phenotypes Left ventricular noncompaction for gene: ACTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTC1 |
Zornitza Stark Source BabySeq Category C gene was added to ACTC1. Source Expert Review Red was added to ACTC1. Added phenotypes Atrial septal defect for gene: ACTC1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ACTC1 | Zornitza Stark Added phenotypes Cardiomyopathy, familial hypertrophic for gene: ACTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTC1 |
Zornitza Stark gene: ACTC1 was added gene: ACTC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | CTC1 | Zornitza Stark Added phenotypes Coats plus syndrome for gene: CTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | CTC1 |
Zornitza Stark gene: CTC1 was added gene: CTC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Coats plus syndrome |
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