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FLG

Synonyms
ATOD2
External resources
Summary
The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.

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
80
Likely pathogenic
400
VUS
61,090
Likely benign
116,047
Benign
12,854

Patient phenotypes

Proportions of phenotypes among 461 patients carrying pathogenic or likely pathogenic variants on FLG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.3%
Abnormality of the musculoskeletal system
30.6%
Abnormality of head or neck
25.4%
Abnormality of the cardiovascular system
18.7%
Growth abnormality
18.2%
Abnormality of the eye
17.4%
Abnormality of the integument
15.6%
Abnormality of the ear
14.1%
Abnormality of limbs
10.8%
Abnormality of the genitourinary system
10.8%
Abnormality of the digestive system
10.4%
Abnormality of the immune system
9.3%
Abnormality of the respiratory system
6.9%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of prenatal development or birth
3.5%
Abnormality of the endocrine system
3.3%
Abnormal cellular phenotype
1.7%
Neoplasm
1.1%
Abnormality of the breast
0.7%
Constitutional symptom
0.4%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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