GFI1 Chromosome 1
Growth factor independent 1 transcriptional repressor
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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
RS1290770390
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS200577201
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS2101582188
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS28936382
Conflicting classifications of pathogenicity
Nonimmune chronic idiopathic neutropenia of adults, Neutropenia, severe congenital
Health Risk
RS35896485
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS529448705
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS540625712
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS551351361
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS755193129
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS758542203
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS770306507
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
RS777241871
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 2
Health Risk
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 |