DBT - Gene browser

DBT

dihydrolipoamide branched chain transacylase E2

HCNC Approved Symbol: DBT (HGNC:2698)
Genomic Coordinates: 1:100,186,919 - 100,249,834 (1p21.2)
Synonyms: BCOADC-E2, BCKAD-E2, BCKDH-E2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the DBT gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Elevated plasma branched chain amino acids: 8 (80.0%)
Patient Count: 8 (80.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (80.0%)
Encephalopathy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hyperleucinemia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Developmental delay: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)
Global developmental delay: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)