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Neutropaenia consistent with ELANE variants (Version: )

Relevant disorders: Neutropaenia consistent with ELANE mutations, R313, GT502, TP76
Signed off date: 12 Aug 2026
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
ELANE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A