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Newborns main panel

Gene: PLG

Amber List (moderate evidence)
PLG (plasminogen)
EnsemblGeneIds (GRCh38): ENSG00000122194
EnsemblGeneIds (GRCh37): ENSG00000122194
OMIM: 173350, Gene2Phenotype
PLG is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 13 Feb 2026, 11:18 a.m. | Last Modified: 13 Feb 2026, 11:18 a.m.
Panel Version: 0.503
Created: 13 Feb 2026, 11:18 a.m.
Last Modified: 13 Feb 2026, 11:18 a.m.
Panel version: 0.503

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PLG curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Plasminogen deficiency, type I
Tags
special_consideration condition_removed
OMIM
173350
Clinvar variants
Variants in PLG
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

13 Feb 2026, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PLG. Tag condition_removed tag was added to gene: PLG.

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PLG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PLG. Added phenotypes Plasminogen deficiency, type I for gene: PLG Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PLG. Added phenotypes Plasminogen deficiency, type I for gene: PLG Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PLG. Added phenotypes Plasminogen deficiency, type I for gene: PLG Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PLG. Added phenotypes Plasminogen deficiency, type I for gene: PLG Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to PLG. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Plasminogen deficiency, type I for gene: PLG

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PLG was added gene: PLG was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal