Haematological malignancies cancer susceptibility
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
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: miscellaneous
- Severe congenital neutropenia
- MDS, AML
- OMIM
- 130130
- Clinvar variants
- Variants in ELANE
- Penetrance
- Complete
- Publications
- 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
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to ELANE. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ELANE was added to Haematological malignanciespanel. Sources: Curated sources
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ELANE was created by ellenmcdonagh