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SPATS1

Synonyms
DDIP, SPATA8, SRSP1
External resources

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
39
Likely pathogenic
0
VUS
1,485
Likely benign
302
Benign
0

Patient Phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on SPATS1 gene are displayed below. The following symptoms were found in patients with a variant in SPATS1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.6%
Abnormality of the musculoskeletal system
28.2%
Abnormality of head or neck
20.5%
Abnormality of the eye
20.5%
Growth abnormality
17.9%
Abnormality of the genitourinary system
12.8%
Abnormality of the cardiovascular system
10.3%
Abnormality of the ear
10.3%
Abnormality of metabolism homeostasis
7.7%
Abnormality of the integument
7.7%
Abnormality of blood and blood forming tissues
5.1%
Abnormality of the endocrine system
5.1%
Abnormality of limbs
2.6%
Abnormality of the digestive system
2.6%
Abnormality of the immune system
2.6%
Abnormality of the respiratory system
2.6%
Neoplasm
2.6%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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