1. Panels
  2. Cerebral vascular malformations
  3. KDR
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral vascular malformations

Gene: KDR

Red List (low evidence)
KDR (kinase insert domain receptor)
EnsemblGeneIds (GRCh38): ENSG00000128052
EnsemblGeneIds (GRCh37): ENSG00000128052
OMIM: 191306, Gene2Phenotype
KDR is in 5 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

One variant identified. May just give increased susceptibility. Associated with capillary malformations in the skin rather than cerebral vascular malformations
Created: 12 Dec 2016, 4:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemangioma, capillary infantile, somatic 602089

Publications

Created: 12 Dec 2016, 4:14 p.m.

Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
  • {Hemangioma, capillary infantile, susceptibility to}
  • Hemangioma, capillary infantile, somatic
  • Hemangioma, capillary infantile, somatic, 602089
OMIM
191306
Clinvar variants
Variants in KDR
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to KDR.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KDR.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

KDR was added to Cerebrovascular disorderspanel. Source: Other Model of inheritance for gene KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KDR was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KDR was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen