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Neutropaenia consistent with ELANE mutations v0.1 ELANE Achchuthan Shanmugasundram reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neutropaenia consistent with ELANE mutations v0.1 ELANE Achchuthan Shanmugasundram gene: ELANE was added
gene: ELANE was added to Neutropaenia consistent with ELANE mutations. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neutropaenia consistent with ELANE mutations v0.0 Achchuthan Shanmugasundram Added Panel Neutropaenia consistent with ELANE mutations
Set list of related panels to R313
Set panel types to: GMS Rare Disease