Phagocyte Defects
Gene: HAX1

HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 10:34 a.m. | Last Modified: 17 Jun 2021, 10:34 a.m.

Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548

Publications

Created: 17 Jun 2021, 10:34 a.m.
Last Modified: 17 Jun 2021, 10:34 a.m.
Panel version: 0.58

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
Kostmann syndrome MONDO:0012548

OMIM

605998

Clinvar variants

Variants in HAX1

Penetrance

None

Publications

Panels with this gene