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  2. Pulmonary Arterial Hypertension
  3. KDR
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Pulmonary Arterial Hypertension

Gene: KDR

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 8 Aug 2023, 5:21 a.m. | Last Modified: 8 Aug 2023, 5:21 a.m.
Panel Version: 1.19
Additional case-control and functional data, rated as STRONG by ClinGen.
Created: 11 May 2021, 11 a.m. | Last Modified: 11 May 2021, 11 a.m.
Panel Version: 1.1
Two unrelated individuals with PAH and LoF variants reported; segregation evidence in one family.
Sources: Literature
Created: 4 Feb 2020, 2:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary hypertension

Publications

Created: 4 Feb 2020, 2:12 a.m.

Panel version: 1.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary hypertension
OMIM
191306
Clinvar variants
Variants in KDR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KDR were set to 31980491

11 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdr has been classified as Green List (High Evidence).

27 Jul 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).

27 Jul 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).

4 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KDR was added gene: KDR was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDR were set to 31980491 Phenotypes for gene: KDR were set to Pulmonary hypertension Review for gene: KDR was set to AMBER