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Inborn errors of metabolism

Gene: DBH

Green List (high evidence)

DBH (dopamine beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000123454
EnsemblGeneIds (GRCh37): ENSG00000123454
OMIM: 609312, Gene2Phenotype
DBH is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: formating issue
Created: 25 May 2017, 8:25 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Treatable tag added: 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: 28 Feb 2017, 11:14 a.m.
3 variants reported in at least 4 unrelated cases
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dopamine beta-hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Dopamine beta-hydroxylase deficiency
OMIM
609312
Clinvar variants
Variants in DBH
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DBH. Source London North GLH was added to DBH.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DBH was added gene: DBH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency