Cytopenia - NOT Fanconi anaemia

Gene: ELANE

Green List (high evidence)

ELANE (elastase, neutrophil expressed)
EnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 9 panels

5 reviews

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neutropenia, cyclic, 162800; Neutropenia, severe congenital 1, autosomal dominant, 202700

Variants in this GENE are reported as part of current diagnostic practice

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 5:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic

Variants in this GENE are reported as part of current diagnostic practice

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
162800 Cyclic neutropenia; 202700 Neutropenia, severe congenital 1

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Neutropenia, cyclic 162800;Neutropenia, severe congenital 1, autosomal dominant 202700; PMID(s): none submitted
Created: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic; PMID(s): none submitted
Created: 14 Feb 2019, 5:40 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 162800 Cyclic neutropenia;202700 Neutropenia, severe congenital 1; PMID(s): 10581030; 11001877; 18028488
Created: 8 Feb 2019, 1:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Neutropenia, cyclic 162800;Neutropenia, severe congenital 1, autosomal dominant 202700; PMID(s): 10581030;11675333; Comments: Also exists as a single gene test
Created: 6 Feb 2019, 3:13 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 3:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant 202700
  • 202700 Neutropenia, severe congenital 1
  • 202700 Neutropenia, severe congenital 1, autosomal dominant
  • Neutropenia, cyclic 162800
  • 162800 Cyclic neutropenia
  • 162800 Neutropenia, cyclic
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neutropenia, severe congenital 1, autosomal dominant, 202700; Neutropenia, cyclic, 162800 for gene: ELANE

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ELANE.

14 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic for gene: ELANE

14 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ELANE.

8 Feb 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 202700 Neutropenia, severe congenital 1; 162800 Cyclic neutropenia for gene: ELANE Publications for gene ELANE were changed from 10581030; 11675333 to 18028488; 11001877; 10581030

8 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to ELANE.

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ELANE.

6 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ELANE. Mode of inheritance for gene ELANE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Neutropenia, cyclic 162800; Neutropenia, severe congenital 1, autosomal dominant 202700 for gene: ELANE Publications for gene ELANE were changed from to 10581030; 11675333 Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ELANE was added gene: ELANE was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ELANE was set to