Neurotransmitter disorders

Gene: DBH

Green List (high evidence)

DBH (dopamine beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000123454
EnsemblGeneIds (GRCh37): ENSG00000123454
OMIM: 609312, Gene2Phenotype
DBH is in 6 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.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DBH were set to 27604308; 27778639;27830117

25 May 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

DBH was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DBH were set to 27604308;27778639

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DBH were set to Dopamine beta-hydroxylase deficiency, 223360

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

DBH was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

DBH was added to Neurotransmitter disorderspanel. Sources: Literature