CYP7A1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CYP7A1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Red CYP7A1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency