Periodic fever syndromes
Gene: ELANEEnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 8 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Reasonable to include as a differential diagnosis for familial Mediterranean fever (see GeneReview)Created: 2 Feb 2017, 11:30 a.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Amber ready for further review.Created: 16 Jan 2017, 4:47 p.m.
Added a 'mosaicism' tag based on PMID:25912133 (Hirata et al. 2015) which reports mosaicism of an ELANE mutation in an asymptomatic mother of patients with cyclic Neutropenia (OMIM:162800).Created: 16 Jan 2017, 4:46 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 16 Jan 2017, 4:44 p.m.
PMID:10581030 (Horwitz et al., 1999) identified 7 different single-base substitutions in the ELANE (ELA2) gene in 13 families with cyclic Neutropenia (OMIM:162800) as well as a new mutation in a sporadic case. Additional ELANE mutations in OMIM:162800 reported in other publications, including PMID:25019553 and PMID:25912133.Created: 16 Jan 2017, 4:42 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 16 Jan 2017, 4:30 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Periodic Fever Syndromes
- Neutropenia, cyclic, 162800
- Recurring fever and malaise
- Tags
- 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
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for ELANE were set to 25019553; 25912133; 20301405
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for ELANE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for ELANE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene ELANE were set to Hereditary Periodic Fever Syndromes; Neutropenia, cyclic, 162800; Recurring fever and malaise
Added New Source
Ellen McDonagh (Genomics England Curator)ELANE was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory