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BabyScreen+ newborn screening

Gene: PLG

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus.

Treatment: Ryplazim (plasminogen purified from human plasma)

PMID 29321155: data on 14 patients who completed at least 12 weeks of treatment. The primary end point was an increase in trough plasminogen activity levels by at least an absolute 10% above baseline. The secondary end point was clinical success, defined as ≥50% improvement in lesion number/size or functionality impact from baseline. All patients achieved at least an absolute 10% increase in trough plasminogen activity above baseline. Clinical success was observed in all patients with clinically visible (conjunctiva and gingiva), nonvisible (nasopharynx, bronchus, colon, kidney, cervix, and vagina), and wound-healing manifestations of the disease. Therapeutic effects were rapid, as all but 2 lesions resolved or improved after 4 weeks of treatment. Human Glu-plasminogen was well tolerated in both children and adults.
Created: 22 Dec 2022, 11:09 p.m. | Last Modified: 22 Dec 2022, 11:09 p.m.
Panel Version: 0.1576

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Plasminogen deficiency, type I, MIM# 217090

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Plasminogen deficiency, type I, MIM# 217090
Tags
treatable haematological
OMIM
173350
Clinvar variants
Variants in PLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2024, Gel status: 3

Set Phenotypes, Set publications

Tommy Li (Murdoch Children's Research Institute)

Added phenotypes Plasminogen deficiency, type I, MIM# 217090 for gene: PLG Publications for gene PLG were updated from 29548426; 28795768; 10233898; 9242524; 29987869; 21174000 to 10233898; 28795768; 29548426; 21174000; 9242524; 29987869

27 Jul 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plg has been classified as Green List (High Evidence).

22 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLG were changed from Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090 to Plasminogen deficiency, type I, MIM# 217090

22 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PLG. Tag haematological tag was added to gene: PLG.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLG was added gene: PLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLG were set to 29548426; 28795768; 10233898; 9242524; 29987869; 21174000 Phenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090