PanelApp
  1. Genes and Genomic Entities
  2. DBH

DBH

dopamine beta-hydroxylase
OMIM: 609312, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DBH in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dopamine beta-hydroxylase deficiency, MIM#223360

Green DBH in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 1.7

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dopamine beta-hydroxylase deficiency, MIM#223360

    Red DBH in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Dopamine beta-hydroxylase deficiency

    Green DBH in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 0.51

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • OMIM# 223360 ORTHOSTATIC HYPOTENSION 1
    • ORTHYP1

    Red DBH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Dopamine beta-hydroxylase deficiency