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SRPX2

Synonyms
BPP, CBPS, PMGX, RESDX, SRPUL
External resources
Summary
This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability.

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
4
Likely pathogenic
0
VUS
2,565
Likely benign
1,454
Benign
36

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on SRPX2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of blood and blood-forming tissues
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the immune system
33.3%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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