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
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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: MESH OMIM


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GFI1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GFI1 gene.

More info about this panel

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

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

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

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

Severe congenital neutropenia type 2 Panel

Spain.

By Bioarray

This panel specifically test the GFI1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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


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