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  2. Childhood onset dystonia, chorea or related movement disorder
  3. DBH
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Childhood onset dystonia, chorea or related movement disorder

Gene: DBH

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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

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

History Filter Activity

6 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to DBH. Mode of inheritance for gene DBH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dopamine beta-hydroxylase deficiency, 223360 for gene: DBH Publications for gene DBH were changed from to 27778639; 27830117; 27604308

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: DBH was added gene: DBH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DBH was set to