Renal Tubulopathies and related disorders
Gene: CYP2R1
At least 6 families with biallelic variants.Created: 8 May 2022, 10:23 p.m. | Last Modified: 8 May 2022, 10:23 p.m.
Panel Version: 0.13922
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Publications
Variants in this GENE are reported as part of current diagnostic practice
At least 6 families with biallelic variants.
Sources: Expert listCreated: 1 Apr 2020, 9:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rickets due to defect in vitamin D 25-hydroxylation MIM#600081
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: CYP2R1 was added gene: CYP2R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2R1 were set to 28548312; 15128933 Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081