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  3. BCKDHA
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Aminoacidopathy

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 30 Dec 2021, 12:30 a.m. | Last Modified: 30 Dec 2021, 12:30 a.m.
Panel Version: 0.10397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease, type Ia, MIM# 248600

Publications

Created: 30 Dec 2021, 12:30 a.m.
Last Modified: 30 Dec 2021, 12:30 a.m.
Panel version: Imported from Mendeliome panel version 0.10397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • maple syrup urine disease type 1A MONDO:0023691
Tags
treatable
OMIM
608348
Clinvar variants
Variants in BCKDHA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: BCKDHA.

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: BCKDHA were set to 29152456

2 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BCKDHA was added gene: BCKDHA was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHA were set to 29152456 Phenotypes for gene: BCKDHA were set to maple syrup urine disease type 1A MONDO:0023691