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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

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
28
Likely pathogenic
0
VUS
1,558
Likely benign
3,917
Benign
6,285

Patient phenotypes

Proportions of phenotypes among 28 patients carring pathogenic or likely pathogenic variants on AGBL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.1%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
21.4%
Abnormality of head or neck
17.9%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
10.7%
Abnormality of the musculoskeletal system
10.7%
Abnormality of the digestive system
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of limbs
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the integument
3.6%
Abnormality of the respiratory system
3.6%
Growth abnormality
3.6%
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%
Neoplasm
0%

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