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| BabyScreen+ newborn screening v1.114 | SMAD2 | Tommy Li Added phenotypes Loeys-Dietz syndrome 6, MIM# 619656 for gene: SMAD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1834 | SMAD2 | Zornitza Stark Marked gene: SMAD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1834 | SMAD2 | Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1834 | SMAD2 | Zornitza Stark Classified gene: SMAD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1834 | SMAD2 | Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1833 | SMAD2 |
Zornitza Stark Tag cardiac tag was added to gene: SMAD2. Tag treatable tag was added to gene: SMAD2. |
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| BabyScreen+ newborn screening v0.1833 | SMAD2 |
Zornitza Stark gene: SMAD2 was added gene: SMAD2 was added to gNBS. Sources: Expert Review Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, MIM# 619656 Review for gene: SMAD2 was set to GREEN Added comment: 9 individuals from 5 unrelated families reported with LDS phenotype. Gene-disease association rated 'moderate' by ClinGen but this gene is included in our diagnostic testing. LDS included in gNBS panel as in general medical actionability for the LDS group of disorders is considered established. Can manifest in early childhood. Treatment: different interventions, including beta-blockers, surgical and monitoring Non-genetic confirmatory test: characteristic clinical findings Sources: Expert Review |
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