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BabyScreen+ newborn screening

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

on GUARDIAN gene list, excluded due to previous cat C from babyseq (moderate gene disease association) published literature of cases since then. THis gene is green on our mendeliome for this condition.
Metabolic disease causing infantile neurodisability with basal ganglia changes
Rx genes - treat with valine restricted diet - paper referenced above, only 3 patients! But looks promising
Reports also of milder, older onset cases with dystonia and ataxia
Confirmatory test: acylcarnitine profile
JC might have an opinion but I think it meets our criteria.
Created: 27 Feb 2023, 1:15 a.m. | Last Modified: 27 Feb 2023, 1:15 a.m.
Panel Version: 0.1872

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620

Publications

Created: 27 Feb 2023, 1:15 a.m.
Last Modified: 27 Feb 2023, 1:15 a.m.
Panel version: 0.1872

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620
Tags
treatable metabolic
OMIM
610690
Clinvar variants
Variants in HIBCH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: HIBCH.

5 Mar 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: HIBCH.

5 Mar 2023, 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).

5 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HIBCH were set to

5 Mar 2023, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: HIBCH. Tag metabolic tag was added to gene: HIBCH.

5 Mar 2023, 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).

18 Sep 2022, Gel status: 1

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 gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile