Home > Gene Browser > PLEKHH2

PLEKHH2

Synonyms
PLEKHH1L
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
26
Likely pathogenic
0
VUS
17,481
Likely benign
406
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carring pathogenic or likely pathogenic variants on PLEKHH2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.1%
Abnormality of the musculoskeletal system
30.4%
Abnormality of the cardiovascular system
26.1%
Abnormality of head or neck
21.7%
Abnormality of the immune system
17.4%
Abnormality of the digestive system
13%
Growth abnormality
13%
Abnormality of limbs
8.7%
Abnormality of the endocrine system
8.7%
Abnormality of the eye
8.7%
Abnormality of the genitourinary system
8.7%
Abnormality of the integument
8.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the voice
4.3%
Neoplasm
4.3%
Abnormal cellular phenotype
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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