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COVID-19 research

Gene: ELANE

Green List (high evidence)
ELANE (elastase, neutrophil expressed)
EnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 8 panels

6 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ELANE .PanelApp HGNC gene symbol check: ELANE . IUIS Disease: Elastase deficiency (SCN1) . IUIS Inheritance: AD .T cells: Low or normal, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital Neutropenias
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ELA2, PanelApp HGNC gene symbol check: ELANE, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Congenital neutropenia / Congenital neutropenia; Phagocytic disorders / Cyclic neutropenia / Cyclic neutropenia
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ELANE, GRID_Gene_Symbol: ELANE, GRID_Transcript_ENS_Community submitted: ENST00000590230/ENST000000263621, GRID_Transcript_RefSeq: NM_001972.2, GRID_Transcript_ENS_used_on_Production: ENST00000590230
Created: 17 Apr 2018, 12:12 p.m.
Created: 17 Apr 2018, 12:12 p.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Association with the condition in OMIM, no association in G2P. Two expert reviewers consider it to be green and it's found in 1/4 sources
Created: 24 May 2016, 8:08 p.m.
Created: 24 May 2016, 8:08 p.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Congenital neutropenia
  • Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
  • Neutropenia, cyclic, 162800
  • Cyclic neutropenia
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital 1
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ELANE was added gene: ELANE was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELANE were set to Congenital neutropenia; Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia; Neutropenia, cyclic, 162800; Cyclic neutropenia; Congenital defects of phagocyte number or function; Neutropenia, severe congenital 1; Neutropenia, severe congenital 1, autosomal dominant, 202700