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Mendeliome

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ib, MIM# 248600
Tags
treatable
OMIM
248611
Clinvar variants
Variants in BCKDHB
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: BCKDHB.

30 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600

30 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCKDHB were set to

30 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCKDHB was added gene: BCKDHB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BCKDHB was set to Unknown