Home > Gene Browser > FYCO1

FYCO1

Synonyms
CATC2, CTRCT18, RUFY3, ZFYVE7
External resources
Summary
The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a 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), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2).

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
21
Likely pathogenic
0
VUS
4,641
Likely benign
1,766
Benign
1,002

Patient phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on FYCO1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
23.8%
Abnormality of the eye
23.8%
Abnormality of the musculoskeletal system
23.8%
Abnormality of head or neck
14.3%
Growth abnormality
9.5%
Abnormality of limbs
4.8%
Abnormality of prenatal development or birth
4.8%
Abnormality of the ear
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the integument
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
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%

Have a question or need assistance? Ask here.

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