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Newborns main panel

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 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34137732 (27 cases, 9 families, 2 variants) PMID: 28548312 (7 cases, 2 families, 2 variants) PMID: 35973571 (1 family) PMID: 33715104 (1 family), PMID: 27473561 (2 families)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency for gene: CYP2R1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CYP2R1. Added phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency for gene: CYP2R1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CYP2R1. Added phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency for gene: CYP2R1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CYP2R1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency for gene: CYP2R1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CYP2R1 was added gene: CYP2R1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal