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BabyScreen+ newborn screening v1.30 | APOA5 | Zornitza Stark Marked gene: APOA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v1.30 | APOA5 | Zornitza Stark Gene: apoa5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v1.30 | APOA5 |
Zornitza Stark gene: APOA5 was added gene: APOA5 was added to BabyScreen+ newborn screening. Sources: Expert list treatable tags were added to gene: APOA5. Mode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA5 were set to 23307945; 31390500 Phenotypes for gene: APOA5 were set to Hyperchylomicronaemia, late-onset, MIM# 144650 Review for gene: APOA5 was set to RED Added comment: Established gene-disease association. Variable age of onset, many of the reported individuals are adults. Treatment: Volanesorsen Sources: Expert list |