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| Genomic screening in children: BabyScreen+ v0.49 | TTN |
Lilian Rudd gene: TTN was added gene: TTN was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to PMID: 22335739; 40796136 Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G MIM#604145 Review for gene: TTN was set to AMBER Added comment: Definitive gene disease association for DCM On ACMG additional findings list for truncating variants only Age of onset can be childhood but this might be better for adolescent screening due to higher penetrance with age? I think probably red? Sources: Expert list |
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