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  1. Genes and Genomic Entities
  2. ELANE

ELANE

elastase, neutrophil expressed
OMIM: 130130, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ELANE in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

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 1.3512

    		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 1.44

    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 2.28

    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

    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 1.140

    		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