Hypophosphataemia or rickets
Gene: CYP27B1
Bilallelic pathogenic variants have been reported in multiple families with Vitamin D-dependent ricketsCreated: 28 Jan 2019, 11:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vitamin D-Dependent Rickets
Publications
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 amber to green based on previous comments.Created: 4 Dec 2018, 10:56 a.m.
CYP27B1 is a green gene on the Skeletal dysplasia panel (Version 1.129).Created: 28 Nov 2018, 3:36 p.m.
Two studies describing 5 unrelated patients from different countries diagnosed with type 1 Vitamin D-dependent rickets, who have variants in the CYP27B1 gene. There are also >3 patients/studies in OMIM describing different causative CYP27B1 variants.Created: 28 Nov 2018, 3:34 p.m.
Publications
Ivone Leong: Two studies describing 5 unrel
Gene: cyp27b1 has been classified as Green List (High Evidence).
Publications for gene: CYP27B1 were set to 9486994; 9415400
Gene: cyp27b1 has been classified as Green List (High Evidence).
Publications for gene: CYP27B1 were set to
gene: CYP27B1 was added gene: CYP27B1 was added to Hypophosphataemia or rickets. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I (264700)