Mitochondrial disorders
Gene: HIBCH

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

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

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: 0.174

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
HIBCH deficiency

OMIM

610690

Clinvar variants

Variants in HIBCH

Penetrance

Complete

Publications

PMID: 25251209
24299452

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HIBCH. Panel: Mitochondrial disorders

10 Feb 2016, Gel status: 4