GFI1 Chromosome 1

Growth factor independent 1 transcriptional repressor
14 variants 14 Health Risk

Upload your DNA to see your personal genotypes for variants in GFI1.

What This Gene Does
This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|SNAG transcriptional repressors"
Locus Type
gene with protein product
Location
1p22.1
Ensembl
ENSG00000162676
Associated Conditions (6)
Neutropenia
severe congenital
2
autosomal dominant
Nonimmune chronic idiopathic neutropenia of adults
GFI1-related disorder
Key Variants
All Variants (14)
RSID Category Clinical Significance Conditions
RS1290770390 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS200577201 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS2101582188 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS28936382 Health Risk Conflicting classifications of pathogenicity Nonimmune chronic idiopathic neutropenia of adults, Neutropenia, severe congenital
RS35896485 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS529448705 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS540625712 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS551351361 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS755193129 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS758542203 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS770306507 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS777241871 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS962841876 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital, 2
RS28936381 Health Risk Pathogenic Neutropenia, severe congenital, 2
Sign Up to Analyze Your DNA Log In