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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in ELANE

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.

ELANE gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ELANE gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to ELANE gene

AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA

Description

CYCLIC NEUTROPENIA

Alternate names

Description

Most common symptoms of CYCLIC NEUTROPENIA

Search interest in ELANE

Potential gene panels for ELANE gene

ELA2 (ELANE) Sequencing Panel

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

Inherited Neutropenia panel by next-generation sequencing (NGS) Panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

Inherited Neutropenia Deletion/Duplication Panel Panel

ELA2 (ELANE) Deletion/duplication analysis Panel

Inherited Bone Marrow Failure Sequencing Panel Panel

Severe Congenital Neutropenia Sequencing Panel Panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

ELANE Panel

Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Panel

ELANE mutation analysis Panel

ELANE. Complete sequencing Panel

ELA2. Complete sequencing Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

Cyclic neutropenia (sequence analysis of ELANE gene) Panel

Severe congenital neutropenia (NGS panel for 7 genes) Panel

Hereditary neutropenia (NGS panel for 22 genes) Panel

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

Severe congenital neutropenia (sequence analysis of ELANE gene) Panel

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

Severe congenital neutropenia (sequence analysis of ELANE gene) Panel

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

Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel

Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

Severe Congenital Neutropenia Sequential Panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Neutropenia, severe congenital type 1 Panel

Single gene testing ELANE Panel

Defects of phagocytosis Panel Panel

ELANE-related neutropenia, ELANE (ELA2) sequencing Panel

ELANE Sequence Analysis Panel

aCGH Deletion/Duplication Analysis Panel

Invitae Bone Marrow Failure Syndromes Panel Panel

Invitae ELANE-Related Neutropenia Test Panel

Invitae Periodic Fever Syndromes Panel Panel

Invitae Primary Immunodeficiency Panel Panel

Invitae Phagocyte Defects Panel Panel

Invitae Autoinflammatory Syndromes Panel Panel

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

ONCOLOGY, PANEL Panel

Neutropenia Panel

Periodic fever syndromes Panel

Hereditary Periodic Fever Syndromes: Sequencing Panel Panel

Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel Panel

Periodic Fevers Syndrome NGS Panel Panel

Severe Congenital Neutropenia NGS Panel Panel

ELANE Panel

Primary Immunodeficiency Panel Panel

Comprehensive Hereditary Cancer Panel Panel

Autoinflammatory Syndrome Panel Panel

Comprehensive Hematology Panel Panel

Bone Marrow Failure Syndrome Panel Panel

Congenital Neutropenia Panel Panel

Autosomal dominant severe congenital neutropenia Panel

Severe congenital neutropenia type 1 Panel

Cyclic neutropenia Panel

Severe Congenital Neutropenia Gene Set Panel

Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel Panel

Periodic Fever NGS and Deletion/Duplication Panel Panel

ELANE Gene Sequencing and Deletion/Duplication Analysis Panel

Inherited Bone Marrow Failure Panel Panel

CYCLIC NEUTROPENIA Panel

NEUTROPENIA, SEVERE CONGENITAL (AUTOSOMAL DOMINANT) Panel

NEUTROPENIA CONGENITAL: NGS PANEL Panel

PERIODIC FEVER Panel