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Additional findings_Paediatric

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

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History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Maple syrup urine disease for gene: DBT

27 Aug 2020, 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to Maple syrup urine disease