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| BabyScreen+ newborn screening v1.114 | IARS |
Tommy Li Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 for gene: IARS Publications for gene IARS were updated from 27426735; 34194004 to 34194004; 27426735 |
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| BabyScreen+ newborn screening v0.1990 | IARS | Zornitza Stark Marked gene: IARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1990 | IARS | Zornitza Stark Gene: iars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1990 | IARS | Zornitza Stark Classified gene: IARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1990 | IARS | Zornitza Stark Gene: iars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1989 | IARS |
Zornitza Stark Tag treatable tag was added to gene: IARS. Tag metabolic tag was added to gene: IARS. |
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| BabyScreen+ newborn screening v0.1989 | IARS |
Zornitza Stark gene: IARS was added gene: IARS was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735; 34194004 Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Review for gene: IARS was set to AMBER Added comment: Established gene-disease association. Congenital, multi-system metabolic disorder. N=1 study of Isoleucine supplementation and protein fortification (2.5mg/kg/day, during illness 3.5 g/kg/day) with some clinical improvement. Sources: Expert list |
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