1. Panels
  2. Aminoacidopathy
  3. HIBADH
STRs in panel
Prev Next
Regions in panel
Prev Next

Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified Limited by ClinGen Aminoacidopathy GCEP on 24/03/2023 - https://search.clinicalgenome.org/CCID:005058

Reported in 3 probands however there is lack of clinical evidence to show that hydroxyisobutyrate dehydrogenase deficiency leads to their clinical phenotype.
Sources: ClinGen
Created: 7 Jun 2024, 5:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-hydroxyisobutyric aciduria MONDO:0009371

Publications

Created: 7 Jun 2024, 5:32 a.m.

Panel version: 1.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • 3-hydroxyisobutyric aciduria MONDO:0009371
OMIM
608475
Clinvar variants
Variants in HIBADH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: HIBADH was added gene: HIBADH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBADH were set to 34176136; 35174513 Phenotypes for gene: HIBADH were set to 3-hydroxyisobutyric aciduria MONDO:0009371 Review for gene: HIBADH was set to RED