EHHADH

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EHHADH in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi renotubular syndrome 3
  • OMIM#615605

Green EHHADH in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi renotubular syndrome 3 MONDO:0014275

Green EHHADH in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_Tubulopathies v38.1.0
    • KidGen_Tubulopathies v38.1.0
    Phenotypes
    • Fanconi renotubular syndrome 3, MIM#615605