SLC27A5

solute carrier family 27 member 5
OMIM: 603314, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red SLC27A5 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes choleostatic jaundice and hepatomegaly
Red SLC27A5 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis
Red SLC27A5 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)
Red SLC27A5 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 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	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)