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  3. HIBADH
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Miscellaneous Metabolic Disorders

Gene: HIBADH

Red List (low evidence)
HIBADH (3-hydroxyisobutyrate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000106049
EnsemblGeneIds (GRCh37): ENSG00000106049
OMIM: 608475, Gene2Phenotype
HIBADH is in 3 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Red List (low evidence)

Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies
Sources: Literature
Created: 3 Dec 2021, 3:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
organic aciduria

Publications

Created: 3 Dec 2021, 3:26 a.m.

Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • organic aciduria
OMIM
608475
Clinvar variants
Variants in HIBADH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: hibadh has been classified as Red List (Low Evidence).

3 Dec 2021, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: HIBADH was added gene: HIBADH was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBADH were set to 34176136 Phenotypes for gene: HIBADH were set to organic aciduria Review for gene: HIBADH was set to RED