Home > Gene Browser > ZSCAN2

ZSCAN2

Synonyms
ZFP29, ZNF854
External resources
Summary
The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms.

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
4
Likely pathogenic
0
VUS
1,251
Likely benign
93
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on ZSCAN2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of blood and blood-forming tissues
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the endocrine system
25%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the nervous system
25%
Growth abnormality
25%
Abnormal cellular phenotype
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 ear
0%
Abnormality of the eye
0%
Abnormality of the genitourinary 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%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes