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OPHN1

Synonyms
ARHGAP41, MRX60, OPN1
External resources
Summary
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism.

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
3
Likely pathogenic
0
VUS
1,453
Likely benign
784
Benign
34

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on OPHN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
66.7%
Abnormality of the musculoskeletal system
66.7%
Abnormality of the nervous system
66.7%
Abnormality of head or neck
33.3%
Abnormality of the digestive system
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
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%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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