Periodic fever syndromes

Gene: ELANE

Green List (high evidence)

ELANE (elastase, neutrophil expressed)
EnsemblGeneIds (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
mosaicism
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

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.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for ELANE were set to 25019553; 25912133; 20301405

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ELANE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ELANE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2017, Gel status: 1

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

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory