Neurotransmitter disorders
Gene: DBH

DBH (dopamine beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000123454
EnsemblGeneIds (GRCh37): ENSG00000123454
OMIM: 609312, Gene2Phenotype
DBH is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

Created: 25 May 2017, 8:38 a.m.

Panel version: 0.20

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 10:54 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert Review Green

Phenotypes

Dopamine beta-hydroxylase deficiency, 223360

Tags

treatable

OMIM

609312

Clinvar variants

Variants in DBH

Penetrance

Complete

Publications

Panels with this gene