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FYCO1

Synonyms
CATC2, CTRCT18, RUFY3, ZFYVE7
External resources
Summary
This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2).

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
14
Likely pathogenic
0
VUS
1,858
Likely benign
1,216
Benign
592

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on FYCO1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.7%
Abnormality of the nervous system
28.6%
Abnormality of the musculoskeletal system
21.4%
Abnormality of head or neck
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the integument
7.1%
Growth abnormality
7.1%
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 digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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