Skeletal dysplasia
Gene: CYP27B1
Not listed in SD nosology paper. Multiple cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vitamin D-dependent rickets, type I 264700
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CYP27B1; Initial rating suggestion: Green if considered an SD.Created: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 13 Jul 2016, 8:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:44 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vitamin D-dependent rickets, type I 264700
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Vitamin D-dependent rickets, type I 264700 for gene: CYP27B1
Source NHS GMS was added to CYP27B1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CYP27B1 were set to Vitamin D-dependent rickets, type I 264700
Mode of inheritance for CYP27B1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CYP27B1 was created by sleigh
CYP27B1 was added to Unexplained skeletal dysplasiapanel. Sources: