01
At a glance
Association overview
02
Provenance
Evidence and sources
03
HAX1
The gene
04
Severe Congenital Neutropenia
The disorder
05
ClinVar and variant evidence
Genetic basis
07
Provenance
The association between HAX1 (HCLS1 Associated Protein X-1) and Severe Congenital Neutropenia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.