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Molecular autopsy

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
OMIM
609312
Clinvar variants
Variants in DBH
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Dopamine beta-hydroxylase deficiency for gene: DBH

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DBH was added gene: DBH was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency