Skeletal dysplasia
Gene: CYP27B1

CYP27B1 (cytochrome P450 family 27 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000111012
EnsemblGeneIds (GRCh37): ENSG00000111012
OMIM: 609506, Gene2Phenotype
CYP27B1 is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not listed in SD nosology paper. Multiple cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vitamin D-dependent rickets, type I 264700

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

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.

Created: 21 Jun 2016, 12:44 p.m.

Panel version: 0.22

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:02 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Vitamin D-dependent rickets, type I 264700

OMIM

609506

Clinvar variants

Variants in CYP27B1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Vitamin D-dependent rickets, type I 264700 for gene: CYP27B1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CYP27B1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4