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This Panel is marked as Internal

Newborns main panel
Gene: BCKDHB

BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000083123
EnsemblGeneIds (GRCh37): ENSG00000083123
OMIM: 248611, Gene2Phenotype
BCKDHB is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.

Panel Version: 0.137

BCKDHB curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Maple syrup urine disease, type Ib

OMIM

Clinvar variants

Variants in BCKDHB

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ib for gene: BCKDHB

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ib for gene: BCKDHB

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ib for gene: BCKDHB

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ib for gene: BCKDHB

9 Mar 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed was removed from gene: BCKDHB.

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed tag was added to gene: BCKDHB.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ib for gene: BCKDHB

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: BCKDHB was added gene: BCKDHB was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal