GFI1 gene related symptoms and diseases
All the information presented here about the GFI1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GFI1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Fever | Uncommon - Between 30% and 50% cases |
| Recurrent infections | Uncommon - Between 30% and 50% cases |
| Leukemia | Uncommon - Between 30% and 50% cases |
| Neutropenia | Uncommon - Between 30% and 50% cases |
| Acute myeloid leukemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GFI1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pneumonia
- Recurrent pneumonia
- B lymphocytopenia
- Congenital neutropenia
- Monocytosis
Rare diseases associated to GFI1 gene
Here you will find a list of rare diseases related to the GFI1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA
Description
Autosomal dominant severe congenital neutropenia is a rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.
More info about AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA
SOURCES: ORPHANET
ADULT IDIOPATHIC NEUTROPENIA
Alternate names
ADULT IDIOPATHIC NEUTROPENIA Is also known as nonimmune chronic idiopathic neutropenia of adults, ni-cina
Description
Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in adults but predisposing to leukemia in a subset of patients (Papadaki et al., 2002).
Most common symptoms of ADULT IDIOPATHIC NEUTROPENIA
- Fever
- Recurrent infections
- Leukemia
- Neutropenia
- Acute myeloid leukemia
More info about ADULT IDIOPATHIC NEUTROPENIA
NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2
Most common symptoms of NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2
- Pneumonia
- Recurrent pneumonia
- B lymphocytopenia
- Congenital neutropenia
- Monocytosis
More info about NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2
Search interest in GFI1
Potential gene panels for GFI1 gene
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panel United States.
Inherited Neutropenia panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia panel by next-generation sequencing (NGS) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel United States.
Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Inherited Neutropenia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia Deletion/Duplication Panel that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 LYST VPS13B CSF3R G6PC3 CXCR4
More info about this panel United States.
GFI1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GFI1 gene.
More info about this panel United States.
GFI1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GFI1 gene.
More info about this panel United States.
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Severe Congenital Neutropenia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Severe Congenital Neutropenia Sequencing Panel that also includes the following genes: WAS VPS45 HAX1 CSF3R G6PC3 CXCR4 ELANE GFI1
More info about this panel United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
GFI1 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the GFI1 gene.
More info about this panel Netherlands.
Severe congenital neutropenia type 2, AD (sequence analysis of GFI1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GFI1 gene.
More info about this panel Portugal.
Severe congenital neutropenia (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Severe congenital neutropenia (NGS panel for 7 genes) that also includes the following genes: WAS VPS45 HAX1 G6PC3 JAGN1 ELANE GFI1
More info about this panel Portugal.
Hereditary neutropenia (NGS panel for 22 genes) Panel
Portugal.
By CGC Genetics Hereditary neutropenia (NGS panel for 22 genes) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel Portugal.
Severe Congenital Neutropenia via GFI1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GFI1 gene.
More info about this panel United States.
Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B
More info about this panel United States.
Severe Congenital Neutropenia Sequential Panel Panel
United States.
By FirmaLab Severe Congenital Neutropenia Sequential Panel that also includes the following genes: WAS HAX1 G6PC3 ELANE GFI1
More info about this panel United States.
Neutropenia, severe congenital type 2, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GFI1 gene.
More info about this panel Germany.
Neutropenia, nonimmune chronic idiopathic, of adults Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GFI1 gene.
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel Germany.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Phagocyte Defects Panel Panel
United States.
By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA
More info about this panel United States.
Neutropenia, severe congenital 2 (SCN2): GFI1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GFI1 gene.
More info about this panel Spain.
Neutropenia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neutropenia that also includes the following genes: WAS VPS45 HAX1 CSF3R G6PC3 JAGN1 ELANE GFI1 RAC2
More info about this panel Spain.
Severe Congenital Neutropenia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Severe Congenital Neutropenia NGS Panel that also includes the following genes: WAS HAX1 G6PC3 ELANE GFI1
More info about this panel United States.
GFI1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GFI1 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Congenital Neutropenia Panel Panel
Finland.
By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST
More info about this panel Finland.
Severe congenital neutropenia type 2 Panel
Spain.
By Bioarray
This panel specifically test the GFI1 gene.
More info about this panel Spain.
Severe Congenital Neutropenia Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Severe Congenital Neutropenia Gene Set that also includes the following genes: RUNX1 SRP54 TAZ TCIRG1 WAS VPS45 HAX1 SBDS LYST VPS13B
More info about this panel United States.
Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel that also includes the following genes: WAS HAX1 CSF3R G6PC3 ELANE GFI1
More info about this panel United States.
GFI1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GFI1 gene.
More info about this panel United States.
Inherited Bone Marrow Failure Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
NEUTROPENIA, SEVERE CONGENITAL (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL NEUTROPENIA, SEVERE CONGENITAL (AUTOSOMAL DOMINANT) that also includes the following genes: ELANE GFI1
More info about this panel Spain.
NEUTROPENIA CONGENITAL: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEUTROPENIA CONGENITAL: NGS PANEL that also includes the following genes: WAS VPS45 HAX1 SBDS CSF3R G6PC3 CXCR4 JAGN1 ELANE GFI1
More info about this panel Spain.
Severe Congenital Neutropenia Type 2 , Sequencing GFI1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GFI1 gene.
More info about this panel Spain.
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
Spain.
By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel Spain.
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TAZ WAS HAX1 CSF3R G6PC3 LAMTOR2 ELANE GFI1 RAC2
More info about this panel Spain.
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: TAZ WAS WIPF1 HAX1 SBDS LYST VPS13B CSF3R G6PC3 CXCR4
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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