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  3. KDR
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Fetal anomalies

Gene: KDR

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

Pathogenic variant seen in R14 case presenting with multiple congenital anomalies including tetralogy of Fallot, agenesis of corpus callosum, rhombencephalosynapsis, incomplete lobation of right lung and hemivertebrae. Lots of reports with Tetraology but no reports with other structural anomalies, also causes capillary malformations, no antenatal reports. If isolated tetraology, R21 would not currently be offered.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemangioma, capillary infantile, somatic, MIM#602089

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hemangioma, capillary infantile, somatic, OMIM:602089
OMIM
191306
Clinvar variants
Variants in KDR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KDR was added gene: KDR was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDR were set to 28991257; 34113005; 30232381 Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic, OMIM:602089