Pigmentary skin disorders
Gene: VDR
VDR (vitamin D receptor)
EnsemblGeneIds (GRCh38): ENSG00000111424
EnsemblGeneIds (GRCh37): ENSG00000111424
OMIM: 601769, Gene2Phenotype
VDR is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000111424
EnsemblGeneIds (GRCh37): ENSG00000111424
OMIM: 601769, Gene2Phenotype
VDR is in 9 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: VDR; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Sources
-
- London North GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Susceptibility to skin cancer
- OMIM
- 601769
- Clinvar variants
- Variants in VDR
- Penetrance
- None
- Panels with this gene
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to VDR.
31 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: VDR was added gene: VDR was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: VDR was set to Phenotypes for gene: VDR were set to Susceptibility to skin cancer