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Prepair 1000+

Gene: BCKDHB

Green List (high evidence)

BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000083123
EnsemblGeneIds (GRCh37): ENSG00000083123
OMIM: 248611, Gene2Phenotype
BCKDHB is in 14 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease, type Ib 620698

Publications

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

12 Dec 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib, 248600 (3) to Maple syrup urine disease, type Ib 620698

12 Dec 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: BCKDHB were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Maple syrup urine disease, type Ib, 248600 (3) for gene: BCKDHB

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: BCKDHB was added gene: BCKDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)