IBMDx study
Gene: HAX1
HAX1 (HCLS1 associated protein X-1)
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000143575
EnsemblGeneIds (GRCh37): ENSG00000143575
OMIM: 605998, Gene2Phenotype
HAX1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Kostmann syndrome MONDO:0012548
- Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
- OMIM
- 605998
- Clinvar variants
- Variants in HAX1
- Penetrance
- None
- Panels with this gene
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HAX1 was added gene: HAX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: HAX1 was set to Unknown Phenotypes for gene: HAX1 were set to Kostmann syndrome MONDO:0012548; Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738