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  2. Multiple monogenic benign skin tumours
  3. VDR
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Multiple monogenic benign skin tumours

Gene: VDR

No list
VDR (vitamin D receptor)
EnsemblGeneIds (GRCh38): ENSG00000111424
EnsemblGeneIds (GRCh37): ENSG00000111424
OMIM: 601769, Gene2Phenotype
VDR is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was demoted from Red to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.
Created: 19 Feb 2019, 7:43 p.m.
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: 29 Jan 2019, 10:38 a.m.
Created: 29 Jan 2019, 10:38 a.m.

Panel version: 0.7

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to skin cancer
Tags
curated_removed
OMIM
601769
Clinvar variants
Variants in VDR
Penetrance
None
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: VDR.

19 Feb 2019, Gel status: 0

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Removed was added to VDR. Rating Changed from Red List (low evidence) to No List (delete)

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to VDR.

29 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 Multiple monogenic benign skin tumours. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: VDR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to Susceptibility to skin cancer