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Fetal anomalies

Gene: CYP2R1

Red List (low evidence)
CYP2R1 (cytochrome P450 family 2 subfamily R member 1)
EnsemblGeneIds (GRCh38): ENSG00000186104
EnsemblGeneIds (GRCh37): ENSG00000186104
OMIM: 608713, Gene2Phenotype
CYP2R1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76
Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.76

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Red List (low evidence)

Established association with AR rickets due to defect in vitamin D 25-hydroxylation deficiency. Postnatal phenotype: childhood onset, similar to nutritional rickets (low vit D, calcium, phosphate and skeletal changes). Multiple case reports and series, missense and splice variants, some with functional data demonstrating loss of 25 hydroxylase enzyme. No prenatal cases documented.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rickets due to defect in vitamin D 25-hydroxylation deficiency, MIM#600081

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Rickets due to defect in vitamin D 25-hydroxylation deficiency, OMIM:600081
OMIM
608713
Clinvar variants
Variants in CYP2R1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CYP2R1 was added gene: CYP2R1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red 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, OMIM:600081