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Vascular Malformations_Germline

Gene: KDR

Amber List (moderate evidence)
KDR (kinase insert domain receptor)
EnsemblGeneIds (GRCh38): ENSG00000128052
EnsemblGeneIds (GRCh37): ENSG00000128052
OMIM: 191306, Gene2Phenotype
KDR is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: There is currently insufficient reports in patients to determine if this gene causes an inherited vascular malformation (haemangioma).
Created: 20 Jan 2020, 11:23 p.m. | Last Modified: 20 Jan 2020, 11:23 p.m.
Panel Version: 0.20
The variant identified in PMID: 18931684 (Cys482Arg) in the germline of two unrelated hemangioma cases is too common in gnomAD to be associated with rare dominant disease, but may be a susceptibility loci. Another germline missense variant has been identified in a case of cystic hygroma (PMID: 30475086). Flk1-/- (Kdr-/-) mice are embryonic lethal and demonstrate an early defect in the development of hematopoietic and endothelial cells. Organized blood vessels could not be observed.
Sources: Expert list
Created: 20 Jan 2020, 11:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Hemangioma, capillary infantile, susceptibility to} 602089; Hemangioma, capillary infantile, somatic 602089; Cystic hygroma

Publications

Created: 20 Jan 2020, 11:22 p.m.

Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • {Hemangioma, capillary infantile, susceptibility to} 602089
  • Hemangioma, capillary infantile, somatic 602089
  • Cystic hygroma
Tags
somatic
OMIM
191306
Clinvar variants
Variants in KDR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Jan 2020, Gel status: 1

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag somatic tag was added to gene: KDR.

20 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KDR was added gene: KDR was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDR were set to 30475086; 7596435; 24704994; 18931684 Phenotypes for gene: KDR were set to {Hemangioma, capillary infantile, susceptibility to} 602089; Hemangioma, capillary infantile, somatic 602089; Cystic hygroma Review for gene: KDR was set to AMBER