IBMDx study
Gene: ELANE

ELANE (elastase, neutrophil expressed)
EnsemblGeneIds (GRCh38): ENSG00000197561
EnsemblGeneIds (GRCh37): ENSG00000197561
OMIM: 130130, Gene2Phenotype
ELANE is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe congenital neutropaenia is a heterogeneous disorder of haematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations.
Created: 15 Jun 2021, 11:11 a.m. | Last Modified: 15 Jun 2021, 11:11 a.m.

Panel Version: 0.246

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700

Publications

19036076

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 15 Jun 2021, 11:11 a.m.
Last Modified: 15 Jun 2021, 11:11 a.m.
Panel version: 0.20

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
IBMDx Study
Victorian Clinical Genetics Services

Phenotypes

Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700

OMIM

130130

Clinvar variants

Variants in ELANE

Penetrance

None

Publications

19036076

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene