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  2. Renal Tubulopathies and related disorders
  3. CYP2R1
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Renal Tubulopathies and related disorders

Gene: CYP2R1

Green List (high evidence)
CYP2R1 (cytochrome P450 family 2 subfamily R member 1)
EnsemblGeneIds (GRCh38): ENSG00000186104
EnsemblGeneIds (GRCh37): ENSG00000186104
OMIM: 608713, Gene2Phenotype
CYP2R1 is in 6 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 8 May 2022, 10:23 p.m.
Last Modified: 8 May 2022, 10:23 p.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Mendeliome panel version 0.13922

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 families with biallelic variants.
Sources: Expert list
Created: 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

Created: 1 Apr 2020, 9:19 a.m.

Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Hypophosphataemic Rickets panel version 0.6

Details

Mode of Inheritance
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
OMIM
608713
Clinvar variants
Variants in CYP2R1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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