Episodic Ataxia
Gene: BCKDHBEnsemblGeneIds (GRCh38): ENSG00000083123
EnsemblGeneIds (GRCh37): ENSG00000083123
OMIM: 248611, Gene2Phenotype
BCKDHB is in 14 panels
1 review
Eunice Chan (Royal Children's Hospital)
Intermediate/intermittent maple syrup urine disease
Sources: Expert listCreated: 9 Sep 2020, 4:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Episodic ataxia during metabolic crises; paroxysmal nonkinesigenic dyskinesia
Publications
- PMID 32151765
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Episodic ataxia during metabolic crises
- paroxysmal nonkinesigenic dyskinesia
- Tags
- OMIM
- 248611
- Clinvar variants
- Variants in BCKDHB
- Penetrance
- None
- Publications
-
- PMID 32151765
- Panels with this gene
-
- Episodic Ataxia
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: BCKDHB.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bckdhb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bckdhb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eunice Chan (Royal Children's Hospital)gene: BCKDHB was added gene: BCKDHB was added to Episodic Ataxia. Sources: Expert list Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to PMID 32151765 Phenotypes for gene: BCKDHB were set to Episodic ataxia during metabolic crises; paroxysmal nonkinesigenic dyskinesia