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  3. VDR
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Calcium and Phosphate disorders

Gene: VDR

Green List (high evidence)
VDR (vitamin D receptor)
EnsemblGeneIds (GRCh38): ENSG00000111424
EnsemblGeneIds (GRCh37): ENSG00000111424
OMIM: 601769, Gene2Phenotype
VDR is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.

More than 10 unrelated families reported.
Created: 19 Mar 2022, 1:49 a.m. | Last Modified: 19 Mar 2022, 1:49 a.m.
Panel Version: 0.11578

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rickets, vitamin D-resistant, type IIA, MIM# 277440

Publications

Created: 19 Mar 2022, 1:49 a.m.
Last Modified: 19 Mar 2022, 1:49 a.m.
Panel version: Imported from Mendeliome panel version 0.11578

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Rickets, vitamin D-resistant, type IIA, MIM# 277440
OMIM
601769
Clinvar variants
Variants in VDR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vdr has been classified as Green List (High Evidence).

31 May 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: VDR were changed from to Rickets, vitamin D-resistant, type IIA, MIM# 277440

31 May 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: VDR were set to

31 May 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: VDR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VDR was added gene: VDR was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: VDR was set to Unknown