Paroxysmal Dyskinesia
Gene: HIBCHEnsemblGeneIds (GRCh38): ENSG00000198130
EnsemblGeneIds (GRCh37): ENSG00000198130
OMIM: 610690, Gene2Phenotype
HIBCH is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Eunice Chan (Royal Children's Hospital)
OMIM 610690
If mild phenotype, can present with PED, hyperCKaemia, hyperammoniaemia and pallidal hyperintensities on MRI
Sources: Expert listCreated: 9 Sep 2020, 3:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.
Publications
- PMID 31679561
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
- Paroxysmal dyskinesia (exercise induced or without clear trigger
- isolated or with additional features
- mitochondrial disorder (Leigh syndrome)
- neurodevelopmental disability
- epilepsy.
- OMIM
- 610690
- Clinvar variants
- Variants in HIBCH
- Penetrance
- None
- Publications
-
- PMID 31679561
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hibch has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HIBCH were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy. to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hibch 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: HIBCH was added gene: HIBCH was added to Paroxysmal Dyskinesia. Sources: Expert list Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to PMID 31679561 Phenotypes for gene: HIBCH were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.