Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Mendeliome v1.702 CYB561 Zornitza Stark Marked gene: CYB561 as ready
Mendeliome v1.702 CYB561 Zornitza Stark Gene: cyb561 has been classified as Green List (High Evidence).
Mendeliome v1.702 CYB561 Zornitza Stark Classified gene: CYB561 as Green List (high evidence)
Mendeliome v1.702 CYB561 Zornitza Stark Gene: cyb561 has been classified as Green List (High Evidence).
Mendeliome v1.701 CYB561 Zornitza Stark gene: CYB561 was added
gene: CYB561 was added to Mendeliome. Sources: Expert Review
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)
Sources: Expert Review