Structural basal ganglia disorders
Gene: HIBCH

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

5 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:45 a.m.

Panel version: Imported from "Mitochondrial disorders" panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 8 variants reported.
Created: 2 Mar 2017, 1:35 p.m.

Created: 2 Mar 2017, 1:35 p.m.

Panel version: 0.68

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 3:11 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 10 Feb 2016, 12:28 p.m.

Comment on list classification: Both reviewers agree this should be promoted from red to green.
Created: 10 Feb 2016, 12:27 p.m.

Created: 10 Feb 2016, 12:27 p.m.

Panel version: Imported from "Mitochondrial disorders" panel version 0.174

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: Imported from "Mitochondrial disorders" panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other
Radboud University Medical Center, Nijmegen

Phenotypes

3-hydroxyisobutryl-CoA hydrolase deficiency 250620

OMIM

610690

Clinvar variants

Variants in HIBCH

Penetrance

Complete

Panels with this gene