Hypophosphataemia or rickets
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

2 reviews

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Bilallelic pathogenic variants have been reported in multiple families with Vitamin D-dependent rickets
Created: 28 Jan 2019, 11:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vitamin D-Dependent Rickets

Publications

30282619

Created: 28 Jan 2019, 11:48 a.m.

Panel version: 0.31

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 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

Created: 28 Nov 2018, 3:34 p.m.

Panel version: 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Vitamin D-dependent rickets, type I (264700)

OMIM

609506

Clinvar variants

Variants in CYP27B1

Penetrance

None

Publications

Panels with this gene