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APTX

Synonyms
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
External resources
Summary
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified 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
14
Likely pathogenic
0
VUS
4,808
Likely benign
8,557
Benign
198

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on APTX gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the nervous system
42.9%
Abnormality of head or neck
28.6%
Abnormality of the cardiovascular system
28.6%
Abnormality of the ear
28.6%
Growth abnormality
14.3%
Abnormality of limbs
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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