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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple congenital anomalies reported.
Created: 8 Nov 2021, 5:43 a.m. | Last Modified: 8 Nov 2021, 5:43 a.m.
Panel Version: 0.223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ain Roesley (Victorian Clinical Genetics Services)

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: 7 Nov 2021, 11:46 p.m. | Last Modified: 7 Nov 2021, 11:46 p.m.
Panel Version: 0.139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

8 Nov 2021, 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).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HIBCH were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY