ELANE:Ensemblv90

elastase, neutrophil expressed
OMIM: 130130, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ELANE in Bone Marrow Failure Level 2: Haematological disorders Version 1.131 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	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 1.3802	2 reviews	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 1.45 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 Autoinflammatory Disorders Level 2: Immunological disorders Version 2.40 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 0.3	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes Severe congenital neutropenia autosomal dominant
Green ELANE in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neutropenia, congenital
Green ELANE in IBMDx study Version 0.38	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Neutropenia, congenital, MIM#202700 Tags treatable immunological
Green ELANE in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
Green ELANE in Phagocyte Defects Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Neutropaenia, cyclic, MIM# 162800
Green ELANE in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Neutropenia, cyclic MIM#162800
Red ELANE in TCGA_PANCAN_2018 Version 1.0	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes Severe congenital neutropenia autosomal dominant
Green ELANE in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Neutropenia, congenital
Green ELANE in IBMDx study Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services IBMDx Study Expert Review Green Phenotypes Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700
Green ELANE in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS BabySeq Category A gene Expert Review Green Phenotypes Neutropenia, congenital, MIM#202700 Tags treatable immunological