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  3. ELANE
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Anaemias and red cell disorders

Gene: ELANE

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

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

13 patients in 13 families in above PMID. Neutropaenia.
Created: 16 Feb 2017, 4:01 p.m.

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

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

Publications

Created: 16 Feb 2017, 4:01 p.m.

Panel version: 0.23

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Severe congenital neutropenia

Publications

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
Phenotypes
  • Cyclic Neutropenia (AD)
  • Neutropenia, Severe Congital 1, Autosomal Dominant
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 1 Autosomal Dominant
  • Cyclic Neutropenia
  • Neutropenia, cyclic, 162800Neutropenia, severe congenital 1, autosomal dominant, 202700
OMIM
130130
Clinvar variants
Variants in ELANE
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ELANE was created by ellenmcdonagh

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELANE was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list