Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ELANE
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 NeutropeniasCreated: 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 neutropeniaCreated: 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: ENST00000590230Created: 17 Apr 2018, 12:12 p.m.
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 sourcesCreated: 24 May 2016, 8:08 p.m.
Source NHS GMS was added to ELANE.
Source North West GLH was added to ELANE.
Source London North GLH was added to ELANE.
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.
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
IUIS Classification February 2018 was added to ELANE. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to ELANE. Panel: Primary immunodeficiency disorders
Gene: elane has been classified as Green List (High Evidence).
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
Phenotypes for gene ELANE were set to Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700, Neutropenia, severe congenital 1
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
ELANE was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
ELANE was created by Louise Daugherty