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HAX1

Synonyms
HCLSBP1, HS1BP1, SCN3
External resources
Summary
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
5
VUS
1,134
Likely benign
67
Benign
6

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on HAX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
23.5%
Abnormality of the nervous system
23.5%
Abnormality of head or neck
17.6%
Abnormality of the ear
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of the immune system
11.8%
Abnormality of the integument
11.8%
Abnormal cellular phenotype
5.9%
Abnormality of the cardiovascular system
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of the respiratory system
5.9%
Growth abnormality
5.9%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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