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Fetal anomalies

Gene: CYP27B1

Red List (low evidence)
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

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76
Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.76

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Red List (low evidence)

Established cause of AR vitamin D-dependent rickets (VDDR) - > 10 case reports and case series (missense and splice variants, some functional data showing loss of 1 alpha hydroxylase enzyme activity). Postnatal phenotype is similar to nutritional rickets with low calcium, typical age of onset 6 months - 2 years. No prenatal cases documented.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vitamin D-dependent rickets, type I, MIM#264700

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Vitamin D-dependent rickets, type I, OMIM:264700
OMIM
609506
Clinvar variants
Variants in CYP27B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CYP27B1 was added gene: CYP27B1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27B1 were set to 34492747; 9486994; 27473561; 12050193; 9415400; 33823104 Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I, OMIM:264700