CYP2R1

cytochrome P450 family 2 subfamily R member 1
OMIM: 608713, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CYP2R1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Green CYP2R1 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list KidGen_CalcPhos v38.1.0 Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Green CYP2R1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Other Phenotypes Rickets due to defect in vitamin D 25-hydroxylation, 600081
Green CYP2R1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Tags treatable endocrine
Green CYP2R1 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Expert Review Green Expert list Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Green CYP2R1 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810 Other disorders of vitamin metabolism