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  3. BCKDHB
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Hyperammonaemia

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 30 Dec 2021, 12:33 a.m. | Last Modified: 30 Dec 2021, 12:33 a.m.
Panel Version: 0.10400

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Dec 2021, 12:33 a.m.
Last Modified: 30 Dec 2021, 12:33 a.m.
Panel version: Imported from Mendeliome panel version 0.10400

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well gene established gene disease association
Created: 11 Feb 2020, 11:24 p.m. | Last Modified: 11 Feb 2020, 11:24 p.m.
Panel Version: 0.1337

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease, type Ib 248600

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Feb 2020, 11:24 p.m.
Last Modified: 11 Feb 2020, 11:24 p.m.
Panel version: Imported from Mendeliome panel version 0.1337

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ib 248600
Tags
treatable
OMIM
248611
Clinvar variants
Variants in BCKDHB
Penetrance
None
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: BCKDHB.

29 Jan 2021, 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 Hyperammonaemia. Sources: Genomics England PanelApp,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