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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Onset in infancy with variable features (OMIM)
Created: 22 Jan 2025, 11 p.m. | Last Modified: 22 Jan 2025, 11 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Jan 2025, 11 p.m.
Last Modified: 22 Jan 2025, 11 p.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620
OMIM
610690
Clinvar variants
Variants in HIBCH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HIBCH were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) for gene: HIBCH

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HIBCH was added gene: HIBCH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)