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PACS2

Synonyms
DEE66, EIEE66, PACS-2, PACS1L
External resources
Summary
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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
11
Likely pathogenic
0
VUS
6,514
Likely benign
5,240
Benign
7,129

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on PACS2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of limbs
36.4%
Abnormality of the musculoskeletal system
36.4%
Abnormality of the nervous system
36.4%
Abnormality of the cardiovascular system
27.3%
Abnormality of the endocrine system
18.2%
Abnormality of head or neck
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Abnormality of the eye
9.1%
Constitutional symptom
9.1%
Growth abnormality
9.1%
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 genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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