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Newborns main panel

Gene: DBH

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33034372 - 25 patients, 19 with molecular diagnosis
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Orthostatic hypotension 1, due to DBH deficiency
OMIM
609312
Clinvar variants
Variants in DBH
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: DBH were changed from Orthostatic hypotension 1, due to DBH deficiency; Orthostatic hypotension 1, due to DBH deficiency to Orthostatic hypotension 1, due to DBH deficiency

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DBH. Added phenotypes Orthostatic hypotension 1, due to DBH deficiency for gene: DBH Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: DBH were changed from Orthostatic hypotension 1, due toDBHdeficiency; Orthostatic hypotension 1, due to DBH deficiency to Orthostatic hypotension 1, due to DBH deficiency

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DBH. Added phenotypes Orthostatic hypotension 1, due toDBHdeficiency for gene: DBH Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: DBH were changed from Orthostatic hypotension 1, due toDBHdeficiency to Orthostatic hypotension 1, due to DBH deficiency

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DBH. Added phenotypes Orthostatic hypotension 1, due toDBHdeficiency for gene: DBH Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Orthostatic hypotension 1, due toDBHdeficiency for gene: DBH

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DBH was added gene: DBH was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal