ELANE

elastase, neutrophil expressed
OMIM: 130130, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ELANE in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
Green ELANE in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Neutropaenia, cyclic, MIM# 162800
Green ELANE in Phagocyte Defects Level 2: Immunological disorders Version 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Neutropaenia, cyclic, MIM# 162800
Green ELANE in Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Version 1.47 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropenia, cyclic MIM#162800
Red ELANE in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Severe congenital neutropenia autosomal dominant
Green ELANE in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neutropenia, congenital
Green ELANE in IBMDx study Version 0.25	review	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
Green ELANE in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Neutropenia, congenital, MIM#202700 Tags treatable immunological