Inherited bleeding disorders
Gene: PLGEnsemblGeneIds (GRCh38): ENSG00000122194
EnsemblGeneIds (GRCh37): ENSG00000122194
OMIM: 173350, Gene2Phenotype
PLG is in 6 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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.Created: 18 Jun 2025, 10:14 a.m. | Last Modified: 18 Jun 2025, 10:14 a.m.
Panel Version: 1.180
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Plasminogen deficiency
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Plasminogen deficiency
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Eligibility statement prior genetic testing
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Plasminogen deficiency, type I, OMIM:217090
- Dysplasminogenemia, OMIM:217090
- OMIM
- 173350
- Clinvar variants
- Variants in PLG
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PLG were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: plg has been classified as Red List (Low Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PLG were changed from Plasminogen deficiency to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090
Added New Source
Louise Daugherty (Genomics England Curator)Eligibility statement prior genetic testing was added to PLG. Panel: Inherited bleeding disorders
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)PLG was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)PLG was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PLG was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene