Dystonia - childhood onset

Gene: DBH

Green List (high evidence)

DBH (dopamine beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000123454
EnsemblGeneIds (GRCh37): ENSG00000123454
OMIM: 609312, Gene2Phenotype
DBH is in 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dopamine beta-hydroxylase deficiency, 223360
Tags
treatable
OMIM
609312
Clinvar variants
Variants in DBH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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

19 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: DBH.

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: DBH was added gene: DBH was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBH were set to 27604308; 27778639; 27830117 Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency, 223360