Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FGL2
Comment on list classification: As reviewed by Boaz Palterer and reported in PMID:36243222, there is a child with early-onset systemic inflammation, autoantibodies, and vasculitis and homozygous truncating FGL2 variant and functional evidence are available in support of the disease association. Hence, this gene should be rated amber with current evidence.Created: 10 Jan 2024, 1:54 p.m. | Last Modified: 10 Jan 2024, 1:54 p.m.
Panel Version: 4.162
Comment on phenotypes: This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 10 Jan 2024, 1:51 p.m. | Last Modified: 10 Jan 2024, 1:51 p.m.
Panel Version: 4.161
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autoinflammatory syndrome, MONDO:0019751
Publications
One subject from one kindred with homozygous truncating FGL2 variant. Some in vitro phenotype rescue and mouse model.
Sources: LiteratureCreated: 24 Oct 2023, 7:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
immunedysregulation; autoimmunity; arthritis; Treg dysfunction; leukocytoclastic vasculitis
Publications
Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FGL2 were changed from autoinflammatory syndrome, MONDO:0019751 to autoinflammatory syndrome, MONDO:0019751
Phenotypes for gene: FGL2 were changed from immunedysregulation; autoimmunity; arthritis; Treg dysfunction; leukocytoclastic vasculitis to autoinflammatory syndrome, MONDO:0019751
gene: FGL2 was added gene: FGL2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGL2 were set to 36243222 Phenotypes for gene: FGL2 were set to immunedysregulation; autoimmunity; arthritis; Treg dysfunction; leukocytoclastic vasculitis Penetrance for gene: FGL2 were set to unknown Review for gene: FGL2 was set to RED