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DISP2

Synonyms
C15orf36, DISPB, HsT16908, LINC00594
External resources
Summary
This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation.

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
9
Likely pathogenic
0
VUS
5,455
Likely benign
279
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on DISP2 gene are displayed below.

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

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