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PHACE(S) syndrome

Gene: KDR

Red List (low evidence)

KDR (kinase insert domain receptor)
EnsemblGeneIds (GRCh38): ENSG00000128052
EnsemblGeneIds (GRCh37): ENSG00000128052
OMIM: 191306, Gene2Phenotype
KDR is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

In 2 unrelated patients with infantile hemangioma (MIM:602089), Jinnin et al. (2008, PMID:18931684) identified a germline T-to-C transition in the KDR gene, resulting in a Cys482-to-Arg (C482R) substitution.
Created: 10 Apr 2017, 3:03 p.m.
In 1 of 15 hemangioma (MIM:602089) specimens, Walter et al. (2002, PMID:11807987) found a pro1147-to-ser (P1147S) missense mutation in the kinase domain of the KDR (VEGFR2) gene.
Created: 10 Apr 2017, 3:03 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
OMIM
191306
Clinvar variants
Variants in KDR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Apr 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1: April 12th 2017. At the time of curation (April 2017), no genetic causes of PHACE(s) were reported, and therefore there are no green genes on the V1.0 panel. Based on clinical advice, VHL is not included on the panel.

10 Apr 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KDR was created by rfoulger

10 Apr 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

KDR was added to PHACE(S) syndromepanel. Sources: Radboud University Medical Center, Nijmegen