EHHADH

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

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red EHHADH in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	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 - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	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