ELANE

elastase, neutrophil expressed
OMIM: 130130, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ELANE in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.34	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Hereditary Periodic Fever Syndromes Neutropenia, cyclic, 162800 Recurring fever and malaise Tags mosaicism
Green ELANE in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Severe congenital neutropenia MDS, AML
Green ELANE in COVID-19 research Level 2: Viral research Version 1.146	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Phenotypes Congenital neutropenia Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia Neutropenia, cyclic, 162800 Cyclic neutropenia Congenital defects of phagocyte number or function Neutropenia, severe congenital 1 Neutropenia, severe congenital 1, autosomal dominant, 202700
Green ELANE in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 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
Green ELANE in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Neutropenia, cyclic 162800 Neutropenia, severe congenital 1, autosomal dominant 202700
Green ELANE in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources Phenotypes Class: miscellaneous Severe congenital neutropenia MDS, AML
Green ELANE in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	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
Green ELANE in Neutropaenia consistent with ELANE mutations Level 2: Haematology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Neutropenia, cyclic, OMIM:162800 Neutropenia, severe congenital 1, autosomal dominant, OMIM:202700 ELANE-related neutropenia, MONDO:1060165