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AGBL1

Synonyms
CCP4, FECD8
External resources
Summary
Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy.

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
40
Likely pathogenic
0
VUS
5,090
Likely benign
4,911
Benign
11,816

Patient phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on AGBL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of the cardiovascular system
27.5%
Abnormality of the eye
20%
Abnormality of head or neck
17.5%
Abnormality of the integument
12.5%
Growth abnormality
12.5%
Abnormality of the genitourinary system
10%
Abnormality of the musculoskeletal system
10%
Abnormality of limbs
7.5%
Abnormality of the ear
7.5%
Abnormality of the endocrine system
7.5%
Abnormality of the immune system
7.5%
Abnormality of prenatal development or birth
5%
Abnormality of the digestive system
5%
Abnormality of blood and blood-forming tissues
2.5%
Abnormality of the breast
2.5%
Abnormality of the respiratory system
2.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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