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  3. PLG
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Bleeding and Platelet Disorders

Gene: PLG

Amber List (moderate evidence)
PLG (plasminogen)
EnsemblGeneIds (GRCh38): ENSG00000122194
EnsemblGeneIds (GRCh37): ENSG00000122194
OMIM: 173350, Gene2Phenotype
PLG is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Conflicting reports about the association of variants in this gene and risk of thrombosis.
Created: 29 Apr 2024, 11:45 p.m. | Last Modified: 29 Apr 2024, 11:45 p.m.
Panel Version: 1.38

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dysplasminogenemia 217090

Publications

Created: 29 Apr 2024, 11:45 p.m.
Last Modified: 29 Apr 2024, 11:45 p.m.
Panel version: 1.38

Jane Lin (The Alfred Hospital)

Included in Genomics England PanelApp "Thrombophilia with a likely monogenic cause" panel. Adding to this panel as this gene has a gene-disease association with thrombophilia.
Sources: Expert Review
Created: 29 Apr 2024, 11:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Plasminogen deficiency, type I; Dysplasminogenemia; MIM#217090

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2024, 11:18 p.m.

Panel version: 1.38

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Plasminogen deficiency, type I
  • Dysplasminogenemia
  • MIM#217090
OMIM
173350
Clinvar variants
Variants in PLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLG were set to

29 Apr 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plg has been classified as Amber List (Moderate Evidence).

29 Apr 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Jane Lin (The Alfred Hospital)

gene: PLG was added gene: PLG was added to Bleeding and Platelet Disorders. Sources: Expert Review Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency, type I; Dysplasminogenemia; MIM#217090 gene: PLG was marked as current diagnostic