Neurotransmitter disordersGene: DBH
added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): Medical therapy (eg, droxidopa) can effectively treat manifestations such as orthostatic hypotension Surveillance of renal function should be instituted For untreated individuals, circumstances such as vigorous exercise, hot environements, and dehydration should be avoided In infantile-onset disease, awareness of hypotension, hypothermia, and hypoglycemia may be beneficial
Created: 25 May 2017, 8:38 a.m.
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype
Created: 25 May 2017, 8:33 a.m.
Comment on publications: 3 variants reported in at least 4 unrelated cases
Created: 25 May 2017, 8:30 a.m.
Comment on phenotypes: Disorders of neurotransmitter metabolism, biogenic amines
Created: 25 May 2017, 8:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for DBH were set to 27604308; 27778639;27830117
DBH was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Publications for DBH were set to 27604308;27778639
Phenotypes for DBH were set to Dopamine beta-hydroxylase deficiency, 223360
DBH was created by Manju
DBH was added to Neurotransmitter disorderspanel. Sources: Literature