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Additional findings_Paediatric v0.2 FBLN5 Zornitza Stark Source BabySeq Category C gene was added to FBLN5.
Source Expert Review Red was added to FBLN5.
Mode of inheritance for gene FBLN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Age-related macular degeneration for gene: FBLN5
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FBLN5 Zornitza Stark Added phenotypes Cutis laxa for gene: FBLN5
Additional findings_Paediatric v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa