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  2. Congenital neutropaenia
  3. ELANE
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Congenital neutropaenia

Gene: ELANE

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

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

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

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: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
Complete
Panels with this gene

History Filter Activity

24 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

24 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

24 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Congenital neutropaeniapanel. Source: Expert list

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ELANE was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen