Disorders of immune dysregulation
Gene: FGL2EnsemblGeneIds (GRCh38): ENSG00000127951
EnsemblGeneIds (GRCh37): ENSG00000127951
OMIM: 605351, Gene2Phenotype
FGL2 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
Child with early onset systemic inflammation, autoantibodies, and vasculitis with supportive functional data
Sources: LiteratureCreated: 28 Oct 2022, 4:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation
Publications
- PMID: 36243222
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
-
- PMID: 36243222
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgl2 has been classified as Amber List (Moderate Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgl2 has been classified as Amber List (Moderate Evidence).
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