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| Stroke v1.50 | PTGIS |
Zornitza Stark changed review comment from: Five individuals from four families reported with biallelic variants in this gene and recurrent cervical internal carotid artery vasospasm (RCICAV). Three different LoF variants observed in compound het or homozygous state. Human carotid artery endothelial cells expressing these truncated variants exhibited markedly reduced PTGIS protein and prostacyclin metabolite production. Prostacyclin is a potent vasodilator, hence impaired biosynthesis is consistent with predisposition to vasospasm. Sources: Literature; to: Five individuals from four families reported with biallelic variants in this gene and recurrent cervical internal carotid artery vasospasm (RCICAV). Three different LoF variants observed in compound het or homozygous state. Human carotid artery endothelial cells expressing these truncated variants exhibited markedly reduced PTGIS protein and prostacyclin metabolite production. Prostacyclin is a potent vasodilator, hence impaired biosynthesis is consistent with predisposition to vasospasm. Amber rating as recurrent rather than unique variants across the families and stroke is usually a multifactorial condition. Sources: Literature |
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| Stroke v1.50 | PTGIS | Zornitza Stark Marked gene: PTGIS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.50 | PTGIS | Zornitza Stark Gene: ptgis has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.50 | PTGIS | Zornitza Stark Classified gene: PTGIS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.50 | PTGIS | Zornitza Stark Gene: ptgis has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.49 | PTGIS |
Zornitza Stark gene: PTGIS was added gene: PTGIS was added to Stroke. Sources: Literature Mode of inheritance for gene: PTGIS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTGIS were set to 42033196 Phenotypes for gene: PTGIS were set to Vascular disorder, MONDO:0005385, PTGIS-related Review for gene: PTGIS was set to AMBER Added comment: Five individuals from four families reported with biallelic variants in this gene and recurrent cervical internal carotid artery vasospasm (RCICAV). Three different LoF variants observed in compound het or homozygous state. Human carotid artery endothelial cells expressing these truncated variants exhibited markedly reduced PTGIS protein and prostacyclin metabolite production. Prostacyclin is a potent vasodilator, hence impaired biosynthesis is consistent with predisposition to vasospasm. Sources: Literature |
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