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Neutropaenia consistent with ELANE mutations
Gene: ELANE
ELANE (elastase, neutrophil expressed)
EnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 8 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162800 & #202700) and the OMIM records were last accessed on 29 December 2025.Created: 29 Dec 2025, 11:14 a.m. | Last Modified: 29 Dec 2025, 11:14 a.m.
Panel Version: 1.2
ELANE has been added to the panel for R313 Neutropaenia consistent with ELANE mutations with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:05 p.m. | Last Modified: 30 Jun 2023, 3:05 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Neutropenia, cyclic, OMIM:162800
- Neutropenia, severe congenital 1, autosomal dominant, OMIM:202700
- ELANE-related neutropenia, MONDO:1060165
- OMIM
- 130130
- Clinvar variants
- Variants in ELANE
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neutropaenia consistent with ELANE mutations
- Haematological malignancies cancer susceptibility
- COVID-19 research
- Periodic fever syndromes
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ELANE were changed from to Neutropenia, cyclic, OMIM:162800; Neutropenia, severe congenital 1, autosomal dominant, OMIM:202700; ELANE-related neutropenia, MONDO:1060165
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ELANE was added gene: ELANE was added to Neutropaenia consistent with ELANE mutations. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown