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Primary immunodeficiency

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

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

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.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, severe congenital 1
  • Congenital neutropenia
  • Cyclic neutropenia
  • Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
  • Congenital defects of phagocyte number or function
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
None
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ELANE.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ELANE.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ELANE.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ELANE were set to Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700, Neutropenia, severe congenital 1, Congenital neutropenia, Cyclic neutropenia, Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to ELANE. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to ELANE. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: elane has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to ELANE. Panel: Primary immunodeficiency disorders Phenotypes for gene ELANE were set to Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700, Neutropenia, severe congenital 1, Congenital neutropenia, Cyclic neutropenia

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ELANE were set to Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700, Neutropenia, severe congenital 1

17 Apr 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to ELANE. Panel: Primary immunodeficiency disorders Model of inheritance for gene ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene ELANE were set to Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700, Neutropenia, severe congenital 1

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ELANE was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

ELANE was created by Louise Daugherty