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Newborns main panel

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 8 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
BCKDHA 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 Ia
OMIM
608348
Clinvar variants
Variants in BCKDHA
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 Ia for gene: BCKDHA

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ia for gene: BCKDHA

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ia for gene: BCKDHA

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ia for gene: BCKDHA

9 Mar 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed was removed from gene: BCKDHA.

9 Mar 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed was removed from gene: BCKDHA.

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed tag was added to gene: BCKDHA.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type Ia for gene: BCKDHA

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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