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  3. DBT
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Hyperammonaemia

Gene: DBT

Green List (high evidence)
DBT (dihydrolipoamide branched chain transacylase E2)
EnsemblGeneIds (GRCh38): ENSG00000137992
EnsemblGeneIds (GRCh37): ENSG00000137992
OMIM: 248610, Gene2Phenotype
DBT is in 12 panels

1 review

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

well reported gene causing Maple syrup urine disease, type II (MIM#248600)
Created: 24 Jul 2020, 8:19 a.m. | Last Modified: 24 Jul 2020, 8:19 a.m.
Panel Version: 0.3507

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease, type II (MIM#248600)

Publications

Created: 24 Jul 2020, 8:19 a.m.
Last Modified: 24 Jul 2020, 8:19 a.m.
Panel version: Imported from Mendeliome panel version 0.3507

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Maple syrup urine disease, type II 248600
Tags
treatable
OMIM
248610
Clinvar variants
Variants in DBT
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: DBT.

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DBT was added gene: DBT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to Maple syrup urine disease, type II 248600