DBH

dopamine beta-hydroxylase
OMIM: 609312, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green DBH in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert Review Green Literature Phenotypes Dopamine beta-hydroxylase deficiency, 223360 Tags treatable
Green DBH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Phenotypes Dopamine beta-hydroxylase deficiency 223360 AR [Dopamine-beta-hydroxylase activity levels, plasma] Dopamine beta-hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines) Tags treatable
Green DBH in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dopamine beta-hydroxylase deficiency
Red DBH in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Dopamine beta-hydroxylase deficiency, 223360
Green DBH in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360