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| Pulmonary Arterial Hypertension v1.19 | BMPR2 | Zornitza Stark reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; 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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| Pulmonary Arterial Hypertension v0.55 | BMPR2 | Zornitza Stark Marked gene: BMPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.55 | BMPR2 | Zornitza Stark Gene: bmpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.7 | BMPR2 | Bryony Thompson Classified gene: BMPR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.7 | BMPR2 | Bryony Thompson Gene: bmpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v0.6 | BMPR2 |
Bryony Thompson gene: BMPR2 was added gene: BMPR2 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450 Review for gene: BMPR2 was set to GREEN Added comment: PAH is the major feature. Sources: Expert list |
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