Dystonia, chorea or related movement disorder, childhood onset
Gene: HIBCH

HIBCH (3-hydroxyisobutyryl-CoA hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000198130
EnsemblGeneIds (GRCh37): ENSG00000198130
OMIM: 610690, Gene2Phenotype
HIBCH is in 11 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Infant onset. Removed from adult onset panel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

3-hydroxyisobutryl-CoA hydrolase deficiency 250620

OMIM

610690

Clinvar variants

Variants in HIBCH

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to HIBCH. Mode of inheritance for gene HIBCH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 for gene: HIBCH

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HIBCH was added gene: HIBCH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HIBCH was set to

Dystonia, chorea or related movement disorder, childhood onset Gene: HIBCH