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PLEKHH1

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
11
Likely pathogenic
97
VUS
18,266
Likely benign
2,121
Benign
0

Patient phenotypes

Proportions of phenotypes among 108 patients carring pathogenic or likely pathogenic variants on PLEKHH1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
63%
Abnormality of the nervous system
24.1%
Abnormality of the musculoskeletal system
18.5%
Abnormality of the integument
13%
Abnormality of head or neck
12%
Abnormality of the ear
8.3%
Abnormality of the genitourinary system
6.5%
Abnormality of limbs
5.6%
Abnormality of the digestive system
5.6%
Growth abnormality
5.6%
Abnormality of the cardiovascular system
4.6%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the immune system
3.7%
Abnormality of the endocrine system
2.8%
Abnormality of the respiratory system
2.8%
Abnormality of prenatal development or birth
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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