EHHADH

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green EHHADH in Mendeliome


Version 2.0

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

Green EHHADH in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

3 reviews 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