PanelApp
  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 1.24

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

Green CYP7A1 in Cholestasis


Version 1.110
Latest signed off version: v1.21 (20 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bile acid synthesis defect, congenital, 3
  • Neonatal and Adult Cholestasis
Tags
  • for-review
  • gene-checked

Red CYP7A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

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 Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset

    		•  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