Neutropenia, Nonimmune Chronic Idiopathic, Of Adults

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).

Clinical Features

Phenotypes and symptoms related to Neutropenia, Nonimmune Chronic Idiopathic, Of Adults

  • Neutropenia
  • Acute myeloid leukemia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Neutropenia, Nonimmune Chronic Idiopathic, Of Adults Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 %
GFI1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GFI1
Specificity
100 %
Genes
100 %
GFI1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GFI1
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Severe Congenital Neutropenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, CXCR4
Specificity
13 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
GFI1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

GFI1
Specificity
100 %
Genes
100 %
Severe congenital neutropenia type 2, AD (sequence analysis of GFI1 gene).

By CGC Genetics in Portugal.

GFI1
Specificity
100 %
Genes
100 %
Severe congenital neutropenia (NGS panel for 7 genes).

By CGC Genetics in Portugal.

HAX1, WAS, ELANE, G6PC3, VPS45, GFI1, JAGN1
Specificity
15 %
Genes
100 %
Hereditary neutropenia (NGS panel for 22 genes).

By CGC Genetics in Portugal.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Severe Congenital Neutropenia via GFI1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GFI1
Specificity
100 %
Genes
100 %
Severe Congenital Neutropenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Severe Congenital Neutropenia Sequential Panel.

By FirmaLab in United States.

HAX1, WAS, ELANE, G6PC3, GFI1
Specificity
20 %
Genes
100 %
Neutropenia, severe congenital type 2, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

GFI1
Specificity
100 %
Genes
100 %
Neutropenia, nonimmune chronic idiopathic, of adults.

By Centogene AG - the Rare Disease Company in Germany.

GFI1
Specificity
100 %
Genes
100 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Phagocyte Defects Panel.

By Invitae in United States.

SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Neutropenia, severe congenital 2 (SCN2): GFI1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GFI1
Specificity
100 %
Genes
100 %
Neutropenia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, RAC2, JAGN1
Specificity
12 %
Genes
100 %
Severe Congenital Neutropenia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HAX1, WAS, ELANE, G6PC3, GFI1
Specificity
20 %
Genes
100 %
GFI1.

By Fulgent Genetics Fulgent Genetics in United States.

GFI1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Congenital Neutropenia Panel.

By Blueprint Genetics in Finland.

SLC37A4, HAX1, GATA2, SBDS, WAS, VPS13B, ACTB, CTSC, LYST, CSF2RA, SRP72, CSF3R, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, JAGN1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Severe congenital neutropenia type 2.

By Bioarray in Spain.

GFI1
Specificity
100 %
Genes
100 %
Severe Congenital Neutropenia Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RUNX1, SLC37A4, HAX1, AP3B1, TAZ, TCIRG1, KRAS, NRAS, GATA2, SBDS, WAS, VPS13B, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HAX1, WAS, CSF3R, ELANE, G6PC3, GFI1
Specificity
17 %
Genes
100 %
GFI1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GFI1
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Severe Congenital Neutropenia Type 2 , Sequencing GFI1 Gene.

By Reference Laboratory Genetics in Spain.

GFI1
Specificity
100 %
Genes
100 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

HAX1, TAZ, WAS, CSF3R, ELANE, G6PC3, GFI1, LAMTOR2, RAC2
Specificity
12 %
Genes
100 %
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Neutropenia, Nonimmune Chronic Idiopathic, Of Adults Is also known as nonimmune chronic idiopathic neutropenia of adults, ni-cina;.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 STEATOCYSTOMA MULTIPLEX GLYCOGEN STORAGE DISEASE X; GSD10 STUVE-WIEDEMANN SYNDROME METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH NEPHRONOPHTHISIS 20; NPHP20