Genes in panel

Inborn errors of metabolism

Gene: EHHADH

No list

EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000113790
EnsemblGeneIds (GRCh37): ENSG00000113790
OMIM: 607037, Gene2Phenotype
EHHADH is in 3 panels

1 review

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

I don't know

Fanconi renotubular syndrome type 3.
The EHHADH gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of peroxisomal fatty acid oxidation.
IEM Nosology Group (IEMbase): Disorders of peroxisomal β-oxidation.
Sources: Literature
Created: 23 Jul 2021, 9 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • L-bifunctional protein deficiency
  • Metabolic acidosis
  • Increased amino acids in urine
OMIM
607037
Clinvar variants
Variants in EHHADH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2021, Gel status: 0

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

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

gene: EHHADH was added gene: EHHADH was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: EHHADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHHADH were set to PMID: 33340416 Phenotypes for gene: EHHADH were set to L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine Review for gene: EHHADH was set to AMBER