PHACE(S) syndrome
Gene: KDR
KDR (kinase insert domain receptor)
EnsemblGeneIds (GRCh38): ENSG00000128052
EnsemblGeneIds (GRCh37): ENSG00000128052
OMIM: 191306, Gene2Phenotype
KDR is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000128052
EnsemblGeneIds (GRCh37): ENSG00000128052
OMIM: 191306, Gene2Phenotype
KDR is in 5 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