| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Marked gene: KLK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Classified gene: KLK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.18 | KLK1 | Zornitza Stark reviewed gene: KLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.18 | KLK1 |
Sangavi Sivagnanasundram 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 Added comment: 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 |
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