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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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The classic form is manifested within the first 2 weeks of life with poor feeding, lethargy, seizures, coma, and death if untreated. Milder forms still result in a progressive course (e.g. precipitated by intercurrent illness) and is characterised by intellectual disability.
Created: 25 Jul 2024, 4:12 a.m. | Last Modified: 25 Jul 2024, 4:12 a.m.
Panel Version: 1.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Classically presents in the newborn period.

Non-genetic confirmatory tests: serum amino acids, urine organic acids

Treatment: dietary management, thiamine
Created: 17 Jul 2024, 6:46 a.m. | Last Modified: 17 Jul 2024, 6:46 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Maple syrup urine disease, type II, 248600 (3)
OMIM
248610
Clinvar variants
Variants in DBT
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2024, 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).

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Maple syrup urine disease, type II, 248600 (3) for gene: DBT

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)