Vascular skin disorders

Gene: KDR

Red List (low evidence)

KDR (kinase insert domain receptor)
EnsemblGeneIds (GRCh38): ENSG00000128052
EnsemblGeneIds (GRCh37): ENSG00000128052
OMIM: 191306, Gene2Phenotype
KDR is in 4 panels

3 reviews

Catherine Snow (Genomics England)

Comment on list classification: KDR subsequentaly rated as Red by Tom Cullup as "Susceptibility, rather than diagnostically causative." OMIM entry has variants only reported in two individuals, one germline one somatic.
Created: 10 Dec 2019, 11:52 a.m. | Last Modified: 11 Dec 2019, 8:02 p.m.
Panel Version: 0.26

Tom Cullup (Great Ormond Street Hospital)

I don't know

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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: KDR; Suggested initial gene rating: Green; 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, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Susceptibility to infantile haemangioma
OMIM
191306
Clinvar variants
Variants in KDR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Set publications

Catherine Snow (Genomics England)

Publications for gene: KDR were set to

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: kdr has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: kdr has been classified as Amber List (Moderate Evidence).

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KDR.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KDR was added gene: KDR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KDR were set to Susceptibility to infantile haemangioma