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  2. Hypophosphataemia or rickets
  3. VDR
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Hypophosphataemia or rickets

Gene: VDR

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

1 review

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 comment.
Created: 4 Dec 2018, 10:59 a.m.
There are >3 papers reporting VDR variants associated with Rickets, vitamin D-resistant, type IIA in OMIM and confirmed as a causative gene for rickets on Gene2Phenotype.
Created: 28 Nov 2018, 3:54 p.m.
Created: 28 Nov 2018, 3:54 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
Phenotypes
  • Rickets, vitamin D-resistant, type IIA (277440)
OMIM
601769
Clinvar variants
Variants in VDR
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: There are >3 papers reporting

29 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: VDR was added gene: VDR was added to Hypophosphataemia or rickets. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA (277440)