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Additional findings_Paediatric

Gene: BCKDHA

Green List (high evidence)

BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide)
EnsemblGeneIds (GRCh38): ENSG00000248098
EnsemblGeneIds (GRCh37): ENSG00000248098
OMIM: 608348, Gene2Phenotype
BCKDHA 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: BCKDHA

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