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FANCG

Synonyms
FAG, XRCC9
External resources
Summary
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G.

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
46
Likely pathogenic
1
VUS
1,674
Likely benign
758
Benign
247

Patient phenotypes

Proportions of phenotypes among 46 patients carrying pathogenic or likely pathogenic variants on FANCG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.8%
Abnormality of the musculoskeletal system
21.7%
Abnormality of the cardiovascular system
19.6%
Abnormality of head or neck
17.4%
Growth abnormality
17.4%
Abnormality of the eye
15.2%
Abnormality of limbs
13%
Abnormality of the ear
13%
Abnormality of the digestive system
10.9%
Abnormality of blood and blood-forming tissues
8.7%
Abnormality of the genitourinary system
8.7%
Abnormality of the immune system
8.7%
Abnormality of the integument
8.7%
Abnormality of the endocrine system
4.3%
Abnormality of the respiratory system
4.3%
Neoplasm
4.3%
Abnormality of prenatal development or birth
2.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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