1. Genes and Genomic Entities
  2. EHHADH

EHHADH

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
OMIM: 607037, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red EHHADH in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • ?Fanconi renotubular syndrome 3 615605
Amber EHHADH in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.104
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Fanconi renotubular syndrome 3, OMIM:615605
    • L-bifunctional protein deficiency
    • Metabolic acidosis
    • Increased amino acids in urine
    Amber EHHADH in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert
    Phenotypes
    • ?Fanconi renotubular syndrome 3, OMIM:615605
    • L-bifunctional protein deficiency
    • Metabolic acidosis
    • Increased amino acids in urine