ELANE gene related symptoms and diseases

All the information presented here about the ELANE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ELANE gene

Symptoms // Phenotype % Cases
Anemia Uncommon - Between 30% and 50% cases
Overlapping toe Uncommon - Between 30% and 50% cases
Cyclic neutropenia Uncommon - Between 30% and 50% cases
Abnormal eosinophil morphology Uncommon - Between 30% and 50% cases
Monocytosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ELANE gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Oral ulcer
  • Congenital neutropenia
  • Recurrent aphthous stomatitis
  • Acute monocytic leukemia
  • Periodontitis
  • Thrombocytosis
  • Acute myeloid leukemia
  • Myeloid leukemia

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ELANE gene

Here you will find a list of rare diseases related to the ELANE. 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

CYCLIC NEUTROPENIA


Alternate names

CYCLIC NEUTROPENIA Is also known as cyclic hematopoiesis

Description

Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital NeutropeniaSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Another autosomal dominant form, SCN2 (OMIM ), is caused by mutation in the protooncogene GFI1 (OMIM ) on 1p22. Autosomal recessive forms include SCN3 (OMIM ), caused by mutation in the HAX1 gene (OMIM ) on 1q21; SCN4 (OMIM ), caused by mutation in the G6PC3 gene (OMIM ) on 17q21; SCN5 (OMIM ), caused by mutation in the VPS45 gene (OMIM ) on 1q21; SCN6 (OMIM ), caused by mutation in the JAGN1 gene (OMIM ) on 3p25; and SCN7 (OMIM ) is caused by mutation in the CSF3R gene (OMIM ) on 1p34. X-linked SCN (SCNX ) is caused by mutation in the WAS gene (OMIM ) on Xp11.See also adult chronic idiopathic nonimmune neutropenia (OMIM ) and chronic benign familial neutropenia (OMIM ). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid LeukemiaSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R ) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by Klimiankou et al., 2016).

Most common symptoms of CYCLIC NEUTROPENIA

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Recurrent respiratory infections
  • Abdominal pain


More info about CYCLIC NEUTROPENIA

SOURCES: OMIM ORPHANET


Potential gene panels for ELANE gene

ELA2 (ELANE) 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 ELANE gene.

More info about this panel

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

ELA2 (ELANE) 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 ELANE 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

ELANE Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ELANE gene.

More info about this panel

Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1

More info about this panel

ELANE mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the ELANE gene.

More info about this panel

ELANE. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ELANE gene.

More info about this panel

ELA2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ELANE gene.

More info about this panel

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

Cyclic neutropenia (sequence analysis of ELANE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ELANE 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

Cyclic neutropenia (deletion/duplication analysis of ELANE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ELANE gene.

More info about this panel

Severe congenital neutropenia (sequence analysis of ELANE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ELANE gene.

More info about this panel

Cyclic neutropenia (deletion/duplication analysis of ELANE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ELANE gene.

More info about this panel

Severe congenital neutropenia (sequence analysis of ELANE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ELANE gene.

More info about this panel

Severe Congenital Neutropenia and Cyclic Neutropenia via ELANE Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ELANE gene.

More info about this panel

Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Periodic Fever Syndromes Sequencing Panel with CNV Detection that also includes the following genes: TNFAIP3 TNFRSF1A LPIN2 IL36RN NLRP3 CARD14 NLRP12 ELANE NOD2 MEFV

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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Neutropenia, severe congenital type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ELANE gene.

More info about this panel

Single gene testing ELANE Panel

Germany.

By CeGaT GmbH

This panel specifically test the ELANE 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

ELANE-related neutropenia, ELANE (ELA2) sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the ELANE gene.

More info about this panel

ELANE Sequence Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the ELANE gene.

More info about this panel

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

Invitae Bone Marrow Failure Syndromes Panel Panel

United States.

By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1

More info about this panel

Invitae ELANE-Related Neutropenia Test Panel

United States.

By Invitae

This panel specifically test the ELANE gene.

More info about this panel

Invitae Periodic Fever Syndromes Panel Panel

United States.

By Invitae Invitae Periodic Fever Syndromes Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 TRNT1 ADA2 NLRP12 ELANE MEFV MVK

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

Invitae Autoinflammatory Syndromes Panel Panel

United States.

By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2

More info about this panel

Neutropenia, Severe congenital type 1 (SCN1): ELA2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ELANE gene.

More info about this panel

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

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

Periodic fever syndromes Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Periodic fever syndromes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1

More info about this panel

Hereditary Periodic Fever Syndromes: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Sequencing Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1

More info about this panel

Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1

More info about this panel

Periodic Fevers Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Periodic Fevers Syndrome NGS Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1

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

ELANE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ELANE 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 Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Autoinflammatory Syndrome Panel Panel

Finland.

By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4

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

Autosomal dominant severe congenital neutropenia Panel

Spain.

By Bioarray

This panel specifically test the ELANE gene.

More info about this panel

Severe congenital neutropenia type 1 Panel

Spain.

By Bioarray

This panel specifically test the ELANE gene.

More info about this panel

Cyclic neutropenia Panel

Spain.

By Bioarray

This panel specifically test the ELANE 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

Periodic Fever NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Periodic Fever NGS and Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1

More info about this panel

ELANE 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 ELANE 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

CYCLIC NEUTROPENIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ELANE gene.

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

PERIODIC FEVER Panel

Spain.

By Laboratorio de Genetica Clinica SL PERIODIC FEVER that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1

More info about this panel

Severe Congenital Neutropenia Type 1 , Sequencing ELANE (ELA2) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ELANE 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

Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1

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

ELANE-Related Neutropenia: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ELANE gene.

More info about this panel


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