Genomics England
GMS Panels
Panels
Genes and Entities

ELANE

elastase, neutrophil expressed
OMIM: 130130
PanelMode of inheritanceDetails
4 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: miscellaneous, Severe congenital neutropenia, MDS, AML
Green
in Neutropaenia consistent with ELANE mutations
R-numbers: R313
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
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