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  2. Pulmonary Arterial Hypertension
  3. KLF2
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Pulmonary Arterial Hypertension

Gene: KLF2

Red List (low evidence)
KLF2 (Kruppel like factor 2)
EnsemblGeneIds (GRCh38): ENSG00000127528
EnsemblGeneIds (GRCh37): ENSG00000127528
OMIM: 602016, Gene2Phenotype
KLF2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

LIMITED by ClinGen.
Created: 8 Aug 2023, 6 a.m. | Last Modified: 8 Aug 2023, 6 a.m.
Panel Version: 1.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary arterial hypertension MONDO:0015924, KLF2-related

Created: 8 Aug 2023, 6 a.m.
Last Modified: 8 Aug 2023, 6 a.m.
Panel version: 1.28

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A missense variant reported in a single PAH family.
Sources: Literature
Created: 28 Jan 2020, 12:29 a.m.

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

Phenotypes
Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, 12:29 a.m.

Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, KLF2-related
OMIM
602016
Clinvar variants
Variants in KLF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLF2 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, KLF2-related

27 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klf2 has been classified as Red List (Low Evidence).

28 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KLF2 was added gene: KLF2 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF2 were set to 28188237 Phenotypes for gene: KLF2 were set to Pulmonary arterial hypertension Review for gene: KLF2 was set to RED