G6PC3 gene related symptoms and diseases
All the information presented here about the G6PC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to G6PC3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Tented upper lip vermilion | Uncommon - Between 30% and 50% cases |
| Sepsis | Uncommon - Between 30% and 50% cases |
| Asthma | Uncommon - Between 30% and 50% cases |
| Renal agenesis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with G6PC3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pulmonary arterial hypertension
- Sparse scalp hair
- Mitral regurgitation
- Broad thumb
- Bronchiectasis
- Lymphopenia
- Recurrent bacterial infections
- Plagiocephaly
And 52 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to G6PC3 gene
Here you will find a list of rare diseases related to the G6PC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO G6PC3 DEFICIENCY
Alternate names
AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO G6PC3 DEFICIENCY Is also known as scn4, severe congenital neutropenia type 4, severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Description
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.
More info about AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO G6PC3 DEFICIENCY
SOURCES: ORPHANET
NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4
Most common symptoms of NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4
- Global developmental delay
- Hearing impairment
- Microcephaly
- Growth delay
- Failure to thrive
More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4
Search interest in G6PC3
Potential gene panels for G6PC3 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.
G6PC3 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 G6PC3 gene.
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.
G6PC3 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 G6PC3 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.
G6PC3 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the G6PC3 gene.
More info about this panel Netherlands.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Severe congenital neutropenia type 4, AR (sequence analysis of G6PC3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the G6PC3 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 (Dursun Syndrome) via G6PC3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the G6PC3 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 4, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the G6PC3 gene.
More info about this panel Germany.
Single gene testing G6PC3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the G6PC3 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.
aCGH Deletion/Duplication Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB
More info about this panel United States.
Invitae Congenital Disorders of Glycosylation Panel Panel
United States.
By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2
More info about this panel United States.
Invitae Monogenic Inflammatory Bowel Disease Panel Panel
United States.
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panel United States.
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 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.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
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.
G6PC3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the G6PC3 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 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.
G6PC3 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 G6PC3 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 OR KOSTMANN SYNDROME (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL NEUTROPENIA, SEVERE CONGENITAL OR KOSTMANN SYNDROME (AUTOSOMAL RECESSIVE) that also includes the following genes: VPS45 HAX1 CSF3R G6PC3 JAGN1
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 4 , Sequencing G6PC3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the G6PC3 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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