Activity
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7 actions
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| Inherited bleeding disorders v1.181 | PLG | Arina Puzriakova Publications for gene: PLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.180 | PLG | Arina Puzriakova Classified gene: PLG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.180 | PLG |
Arina Puzriakova Added comment: Comment on list classification: PLG deficiency causes hypoplasminogenemia characterised by chronic pseudomembranous lesions consisting of fibrin deposition and inflammation, with ligneous conjunctivitis being the predominant clinical feature. Predisposition to thrombosis was indicated in knockout mice which develop spontaneous, severe thromboses in multiple organs (PMID: 7705657). However, studies in humans have shown that severe PLG deficiency is rare and only weakly associated with thrombosis, largely in combination with other risk factors (PMID: 9684804; 12850227; 16849641; 27976734). Overall the evidence indicates that this gene should be demoted from Green to Amber/Red. |
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| Inherited bleeding disorders v1.180 | PLG | Arina Puzriakova Gene: plg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.163 | PLG | Arina Puzriakova Phenotypes for gene: PLG were changed from Plasminogen deficiency to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders | PLG | Louise Daugherty reviewed PLG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders | PLG | BRIDGE consortium reviewed PLG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||