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Intellectual disability syndromic and non-syndromic

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

ID/DD is a feature of this condition.

Both conditions have been curated by ClinGen and classified as Definitive.

https://search.clinicalgenome.org/CCID:005060 - 11/07/2019 (Aminoacidopathy GCEP)
https://search.clinicalgenome.org/CCID:005059 - 06/14/2021 (Mitochondrial GCEP)
Created: 18 Sep 2024, 3:27 a.m. | Last Modified: 18 Sep 2024, 3:27 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603; Leigh syndrome MONDO:0009723

Publications

Details

History Filter Activity

14 Nov 2024, 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).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603; Leigh syndrome MONDO:0009723 to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603; Leigh syndrome MONDO:0009723

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HIBCH were changed from to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603; Leigh syndrome MONDO:0009723

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HIBCH were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HIBCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HIBCH was added gene: HIBCH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIBCH was set to Unknown