CYP3A4

cytochrome P450 family 3 subfamily A member 4
OMIM: 124010, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CYP3A4 in Hypophosphataemia or rickets


Level 2: Endocrine disorders
Version 0.52

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Vitamin D-dependent rickets, type 3, MIM#619073

Amber CYP3A4 in Mendeliome


Version 1.4235

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitamin D-dependent rickets-3, MIM#619073