1. Genes and Genomic Entities
  2. CYP7A1

CYP7A1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red CYP7A1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
Red CYP7A1 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
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 1.645

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


Level 2: Metabolic
Version 8.107
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
    • Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis)
    • Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency