Cytopenias and congenital anaemias
Gene: ELANEEnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 8 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Appropriate phenotype and evidence of causation metCreated: 28 Feb 2017, 1:25 p.m.
13 patients in 13 families in above PMID. Neutropaenia.Created: 16 Feb 2017, 4:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neutropenia, cyclic 162800; Neutropenia, severe congenital 1, autosomal dominant 202700
Publications
- PMID 10581030
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Neutropenia, cyclic 162800
- Neutropenia, severe congenital 1, autosomal dominant 202700
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for ELANE were set to Neutropenia, cyclic 162800; Neutropenia, severe congenital 1, autosomal dominant 202700
Set publications
Helen Brittain (Genomics England Curator)Publications for ELANE were set to 10581030; 11675333;
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)ELANE was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen
Created
Louise Daugherty (Genomics England Curator)ELANE was created by LouiseD