Bone Marrow Failure
Gene: HAX1
Severe congenital neutropaenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukaemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities.
Multiple unrelated families reported.Created: 17 Jun 2021, 10:30 a.m. | Last Modified: 17 Jun 2021, 10:30 a.m.
Panel Version: 0.274
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Publications
Gene: hax1 has been classified as Green List (High Evidence).
Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Publications for gene: HAX1 were set to
Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: HAX1 was added gene: HAX1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HAX1 was set to Unknown