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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
1
VUS
14,115
Likely benign
13,273
Benign
641

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on APTX gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the cardiovascular system
29.2%
Abnormality of the eye
25%
Abnormality of the genitourinary system
25%
Abnormality of head or neck
20.8%
Neoplasm
20.8%
Abnormality of the endocrine system
16.7%
Abnormality of the ear
12.5%
Growth abnormality
12.5%
Abnormality of limbs
8.3%
Abnormality of prenatal development or birth
8.3%
Abnormality of the digestive system
4.2%
Abnormality of the immune system
4.2%
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 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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