DBH

dopamine beta-hydroxylase
OMIM: 609312, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DBH in Mendeliome


Version 2.0

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 2.0

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 1.0

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 1.0

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 2.0

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