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  3. PLG
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Fetal anomalies

Gene: PLG

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

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 3:13 p.m. | Last Modified: 1 Feb 2021, 3:13 p.m.
Panel Version: 1.470
Created: 1 Feb 2021, 3:13 p.m.
Last Modified: 1 Feb 2021, 3:13 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Hydrocephalus

Additional comment: structural features detectable prenatally = -Occlusive hydrocephalus, congenital; Dandy-Walker malformation; Cerebellar hypoplasia
Sources: Expert list
Created: 28 Jan 2021, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Plasminogen deficiency, type I

Created: 28 Jan 2021, 4:11 p.m.

Panel version: 1.205

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Plasminogen deficiency, type I, OMIM:217090
  • Dysplasminogenemia, OMIM:217090
OMIM
173350
Clinvar variants
Variants in PLG
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: PLG.

3 Mar 2022, 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)

27 Jul 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I, OMIM:217090; Hypoplasminogenemia, MONDO:0009009 to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090; Hypoplasminogenemia, MONDO:0009009

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PLG.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: PLG was added gene: PLG was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency, type I Review for gene: PLG was set to GREEN