Hypophosphataemia or rickets
Gene: CYP2R1
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
Ivone Leong: There are 5 reported CYP2R1 va
Gene: cyp2r1 has been classified as Green List (High Evidence).
Gene: cyp2r1 has been classified as Green List (High Evidence).
Publications for gene: CYP2R1 were set to
Mode of inheritance for gene: CYP2R1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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)