Pulmonary Arterial Hypertension

Gene: KLK1

Red List (low evidence)

KLK1 (kallikrein 1)
EnsemblGeneIds (GRCh38): ENSG00000167748
EnsemblGeneIds (GRCh37): ENSG00000167748
OMIM: 147910, Gene2Phenotype
KLK1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Assessed as LIMITED by ClinGen.
Created: 28 Jul 2023, 12:43 a.m. | Last Modified: 28 Jul 2023, 12:43 a.m.
Panel Version: 1.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary arterial hypertension MONDO:0015924

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 31727138
screening of the biobank - 12 individuals with genetic variant in KLK1 relevant to PAH (not all were found to be hereditary). Assay showed that carriers of variants in KLK1 are less clinically severe compared to those who carry variants in BMPR2.

PMID: 17573418
Functional study using sensitive and specific type ELISAs to assay multiple panels of human tissue. KLK1 tissue was abundantly expressed in the pancreas and salivary gland and moderately expressed in the lungs.

Reviewed by ClinGen Pulmonary Hypertension GCEP on 30/8/2022 with limited evidence supporting gene-disease validation
Sources: Other
Created: 27 Jul 2023, 3:46 a.m.

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

Phenotypes
Pulmonary arterial hypertension MONDO:0015924

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924
OMIM
147910
Clinvar variants
Variants in KLK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klk1 has been classified as Red List (Low Evidence).

28 Jul 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klk1 has been classified as Red List (Low Evidence).

27 Jul 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: KLK1 was added gene: KLK1 was added to Pulmonary Arterial Hypertension. Sources: Other Mode of inheritance for gene: KLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLK1 were set to 31727138; 17573418 Phenotypes for gene: KLK1 were set to Pulmonary arterial hypertension MONDO:0015924 Review for gene: KLK1 was set to AMBER