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  2. Renal Tubulopathies and related disorders
  3. VDR
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Renal Tubulopathies and related 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)

Red List (low evidence)

Cannot find evidence for association with nephrocalcinosis.
Created: 16 Jan 2020, 5:20 a.m. | Last Modified: 16 Jan 2020, 5:20 a.m.
Panel Version: 0.10

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

Created: 16 Jan 2020, 5:20 a.m.
Last Modified: 16 Jan 2020, 5:20 a.m.
Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Red
  • 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

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VDR was added gene: VDR was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VDR were set to 17970811; 9005998; 2849209 Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, MIM# 277440