Disorders of immune dysregulation

Gene: FGL2

Amber List (moderate evidence)

FGL2 (fibrinogen like 2)
EnsemblGeneIds (GRCh38): ENSG00000127951
EnsemblGeneIds (GRCh37): ENSG00000127951
OMIM: 605351, Gene2Phenotype
FGL2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Homozygous truncating variant, functional studies include rescue experiments.
Created: 28 Oct 2022, 7:10 a.m. | Last Modified: 28 Oct 2022, 7:10 a.m.
Panel Version: 0.160

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammatory syndrome, MONDO:0019751, FGL2-related

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Child with early onset systemic inflammation, autoantibodies, and vasculitis with supportive functional data
Sources: Literature
Created: 28 Oct 2022, 4:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immune dysregulation

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Autoinflammatory syndrome, MONDO:0019751, FGL2-related
OMIM
605351
Clinvar variants
Variants in FGL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgl2 has been classified as Amber List (Moderate Evidence).

28 Oct 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGL2 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, FGL2-related

28 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgl2 has been classified as Amber List (Moderate Evidence).

28 Oct 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: FGL2 was added gene: FGL2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGL2 were set to PMID: 36243222 Phenotypes for gene: FGL2 were set to Immune dysregulation Review for gene: FGL2 was set to RED