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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

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Classically presents in the newborn period.
Created: 26 Nov 2024, 7:03 a.m. | Last Modified: 26 Nov 2024, 7:03 a.m.
Panel Version: 1.592

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Maple syrup urine disease, type Ia, MIM# 248600
OMIM
608348
Clinvar variants
Variants in BCKDHA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia, 248600 (3) to Maple syrup urine disease, type Ia, MIM# 248600

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: BCKDHA were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Maple syrup urine disease, type Ia, 248600 (3) for gene: BCKDHA

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