CYP7A1

cytochrome P450 family 7 subfamily A member 1
OMIM: 118455, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red CYP7A1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis
Red CYP7A1 in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other NHS GMS Phenotypes Bile acid synthesis defect, congenital, 3 Neonatal and Adult Cholestasis
Red CYP7A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Red CYP7A1 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	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency