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FSCN2

Synonyms
RFSN, RP30
External resources
Summary
This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene.

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
13
Likely pathogenic
2
VUS
1,507
Likely benign
1,391
Benign
2,607

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on FSCN2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the ear
26.7%
Abnormality of head or neck
20%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the respiratory system
13.3%
Growth abnormality
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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