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  3. HIBCH
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Aminoacidopathy

Gene: HIBCH

Green List (high evidence)
HIBCH (3-hydroxyisobutyryl-CoA hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000198130
EnsemblGeneIds (GRCh37): ENSG00000198130
OMIM: 610690, Gene2Phenotype
HIBCH is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Multiple unrelated families reported.
Created: 3 May 2022, 7:02 a.m. | Last Modified: 3 May 2022, 7:02 a.m.
Panel Version: 0.13610

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620

Publications

Created: 3 May 2022, 7:02 a.m.
Last Modified: 3 May 2022, 7:02 a.m.
Panel version: Imported from Mendeliome panel version 0.13610

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
OMIM
610690
Clinvar variants
Variants in HIBCH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hibch has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: HIBCH were set to 29152456

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hibch has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HIBCH was added gene: HIBCH was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 29152456 Phenotypes for gene: HIBCH were set to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603