Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FGR

FGR (FGR proto-oncogene, Src family tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000000938
EnsemblGeneIds (GRCh37): ENSG00000000938
OMIM: 164940, Gene2Phenotype
FGR is in 1 panel

1 review

Boaz Palterer (University of Florence)

Red List (low evidence)

Price-Kuehne et al. described very large kindred with autosomal dominant Gain of function due to loss of regulatory tyrosine in FGR
https://link.springer.com/article/10.1007/s10875-026-01998-z
Sources: Literature
Created: 14 Apr 2026, 7:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 14 Apr 2026, 7:09 p.m.

Panel version: 8.99

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Phenotypes

Autoinflammatory disease
Cutaneous vasculitis
Lung inflammation
Lung fibrosis
Interstitial lung disease

OMIM

164940

Clinvar variants

Variants in FGR

Penetrance

unknown

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

14 Apr 2026, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: FGR was added gene: FGR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FGR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGR were set to Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease Penetrance for gene: FGR were set to unknown Mode of pathogenicity for gene: FGR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FGR was set to RED

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: FGR