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  2. Autonomic neuropathy
  3. DBH
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Autonomic neuropathy

Gene: DBH

Green List (high evidence)
DBH (dopamine beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000123454
EnsemblGeneIds (GRCh37): ENSG00000123454
OMIM: 609312, Gene2Phenotype
DBH is in 5 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Two unrelated families reported and functional studies
Sources: Literature
Created: 11 Nov 2020, 6:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM# 223360 ORTHOSTATIC HYPOTENSION 1; ORTHYP1

Publications

Created: 11 Nov 2020, 6:38 a.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 223360 ORTHOSTATIC HYPOTENSION 1
  • ORTHYP1
OMIM
609312
Clinvar variants
Variants in DBH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: dbh has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: dbh has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: DBH was added gene: DBH was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBH were set to 21209083; 11857564 Phenotypes for gene: DBH were set to OMIM# 223360 ORTHOSTATIC HYPOTENSION 1; ORTHYP1 Review for gene: DBH was set to GREEN