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PLEKHH3

Synonyms
-
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
6
Likely pathogenic
304
VUS
2,424
Likely benign
16
Benign
0

Patient phenotypes

Proportions of phenotypes among 309 patients carring pathogenic or likely pathogenic variants on PLEKHH3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.7%
Abnormality of the musculoskeletal system
21.4%
Abnormality of the cardiovascular system
19.7%
Abnormality of the eye
16.2%
Abnormality of head or neck
14.9%
Abnormality of the ear
13.9%
Growth abnormality
12.3%
Abnormality of the genitourinary system
11.7%
Abnormality of the digestive system
7.1%
Abnormality of the integument
5.2%
Abnormality of the endocrine system
4.2%
Abnormality of the immune system
4.2%
Abnormality of blood and blood-forming tissues
3.9%
Abnormality of limbs
3.6%
Neoplasm
3.2%
Abnormality of prenatal development or birth
2.9%
Abnormality of the respiratory system
1.9%
Abnormality of the breast
0.6%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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