Newborns main panel
Gene: VDR

VDR (vitamin D receptor)
EnsemblGeneIds (GRCh38): ENSG00000111424
EnsemblGeneIds (GRCh37): ENSG00000111424
OMIM: 601769, Gene2Phenotype
VDR is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness

Additional Information: Almost all disease-causing variants have been found within the DNA-binding domain (DBA) and the ligand-binding domain (LBD)
Created: 1 Nov 2024, 11:25 a.m. | Last Modified: 1 Nov 2024, 11:25 a.m.

Panel Version: 0.469

Created: 1 Nov 2024, 11:25 a.m.
Last Modified: 1 Nov 2024, 11:25 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

almost all disease causing variants have been found within the DNA-binding domain (DBA) and the ligand-binding domain (LBD).
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Rickets, vitamin D-resistant, type IIA

Tags

special_consideration

OMIM

601769

Clinvar variants

Variants in VDR

Penetrance

None

Panels with this gene

History Filter Activity

1 Nov 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: VDR.

14 Sep 2023, Gel status: 3