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| BabyScreen+ newborn screening v0.1934 | CYB561 | Zornitza Stark Marked gene: CYB561 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1934 | CYB561 | Zornitza Stark Gene: cyb561 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1934 | CYB561 | Zornitza Stark Classified gene: CYB561 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1934 | CYB561 | Zornitza Stark Gene: cyb561 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1933 | CYB561 |
Zornitza Stark Tag treatable tag was added to gene: CYB561. Tag endocrine tag was added to gene: CYB561. |
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| BabyScreen+ newborn screening v0.1933 | CYB561 |
Zornitza Stark gene: CYB561 was added gene: CYB561 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYB561 were set to 29343526; 31822578 Phenotypes for gene: CYB561 were set to Orthostatic hypotension 2, MIM# 618182 Review for gene: CYB561 was set to GREEN Added comment: Three families reported. Severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Treatment: L-threo-3,4-dihydroxyphenylserine (droxidopa) Non-genetic confirmatory testing: plasma norepinephrine, epinephrine, dopamine Sources: Expert list |
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