CYP7A1

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red CYP7A1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.13

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