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  2. Hypophosphataemia or rickets
  3. CYP2R1
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Hypophosphataemia or rickets

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 11:45 a.m.
Comment on list classification: Promoted from red to green based on previous comment. CYP2R1 is also confirmed as associated with Rickets due to defect in vitamin D 25-hydroxylation on OMIM but no phenotypes are listed for it on Gene2Phenotype.
Created: 4 Dec 2018, 11:06 a.m.
There are 5 reported CYP2R1 variants associated Rickets due to defect in vitamin D 25-hydroxylation.
Created: 29 Nov 2018, 3:26 p.m.

Publications

Created: 29 Nov 2018, 3:26 p.m.

Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rickets due to defect in vitamin D 25-hydroxylation (600081)
OMIM
608713
Clinvar variants
Variants in CYP2R1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: There are 5 reported CYP2R1 va

29 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cyp2r1 has been classified as Green List (High Evidence).

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cyp2r1 has been classified as Green List (High Evidence).

4 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CYP2R1 were set to

29 Nov 2018, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: CYP2R1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

16 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CYP2R1 was added gene: CYP2R1 was added to Hypophosphataemia or rickets. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation (600081)